{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T23:11:47Z","timestamp":1791328307022,"version":"4.3.1"},"reference-count":122,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":413,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"name":"Etablissement Fran\u00ef\u00bf\u00bdais du Sang (EFS)","award":["APR2010 and APR2013-14"],"award-info":[{"award-number":["APR2010 and APR2013-14"]}]},{"name":"GIS Maladies Rares - INSERM","award":["GISMR2010"],"award-info":[{"award-number":["GISMR2010"]}]},{"name":"IRCCS Burlo Garofolo","award":["16\/12"],"award-info":[{"award-number":["16\/12"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2014,9]]},"DOI":"10.1002\/humu.22607","type":"journal-article","created":{"date-parts":[[2014,6,16]],"date-time":"2014-06-16T20:56:55Z","timestamp":1402952215000},"page":"1033-1045","source":"Crossref","is-referenced-by-count":153,"title":["Spectrum of the Mutations in Bernard-Soulier Syndrome"],"prefix":"10.1155","volume":"35","author":[{"given":"Anna","family":"Savoia","sequence":"first","affiliation":[{"name":"Institute for Maternal and Child Health - IRCCS \u201cBurlo Garofolo\u201d; Trieste Italy"},{"name":"Department of Medical Sciences; University of Trieste; Trieste Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinji","family":"Kunishima","sequence":"additional","affiliation":[{"name":"Department of Advanced Diagnosis; Clinical Research Center, National Hospital Organization Nagoya Medical Center; Nagoya Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"De Rocco","sequence":"additional","affiliation":[{"name":"Department of Medical Sciences; University of Trieste; Trieste Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Zieger","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine; University Medical Center of Freiburg; Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaret L.","family":"Rand","sequence":"additional","affiliation":[{"name":"Division of Haematology\/Oncology; Department of Paediatrics, Hospital for Sick Children; Toronto Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nuria","family":"Pujol-Moix","sequence":"additional","affiliation":[{"name":"Department of Medicine; Autonomous University of Barcelona and Sant Pau Research Institute; Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Umran","family":"Caliskan","sequence":"additional","affiliation":[{"name":"Necmettin Erbakan University; Meram Faculty of Medicine; Meram-Konya Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huseyin","family":"Tokgoz","sequence":"additional","affiliation":[{"name":"Necmettin Erbakan University; Meram Faculty of Medicine; Meram-Konya Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Pecci","sequence":"additional","affiliation":[{"name":"IRCCS Policlinico San Matteo Foundation - University of Pavia; Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrizia","family":"Noris","sequence":"additional","affiliation":[{"name":"IRCCS Policlinico San Matteo Foundation - University of Pavia; Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alok","family":"Srivastava","sequence":"additional","affiliation":[{"name":"Department of Haematology; Christian Medical College; Vellore India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher","family":"Ward","sequence":"additional","affiliation":[{"name":"Northern Blood Research Centre; Kolling Institute of Medical Research, University of Sydney and Dept. of Hematology and Transfusion Medicine, Royal North Shore Hospital; Saint Leonards Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Christine","family":"Morel-Kopp","sequence":"additional","affiliation":[{"name":"Northern Blood Research Centre; Kolling Institute of Medical Research, University of Sydney and Dept. of Hematology and Transfusion Medicine, Royal North Shore Hospital; Saint Leonards Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Christine","family":"Alessi","sequence":"additional","affiliation":[{"name":"Laboratoire d\u2019H\u00e9matologie; INSERM UMR 1062, Facult\u00e9 de M\u00e9decine, Universit\u00e9 Aix Marseille; Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvia","family":"Bellucci","sequence":"additional","affiliation":[{"name":"Service d\u2019H\u00e9matologie biologique; AP-HP, H\u00f4pital Lariboisi\u00e8re; Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Beurrier","sequence":"additional","affiliation":[{"name":"Centre de Traitement de l\u2019H\u00e9mophilie; Centre Hospitalier Universitaire d\u2019Angers; Angers France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuel","family":"de Maistre","sequence":"additional","affiliation":[{"name":"CHU de Dijon; CRTH et Centre des coagulopathies, H\u00f4pital du Bocage; Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R\u00e9mi","family":"Favier","sequence":"additional","affiliation":[{"name":"Assistance Publique- H\u00f4pitaux de Paris; Service d\u2019H\u00e9matologie Biologique, H\u00f4pital d'enfants A Trousseau, Paris; InsermU1009; Villejuif France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"H\u00e9zard","sequence":"additional","affiliation":[{"name":"CHU Reims, H\u00f4pital Robert Debr\u00e9; Laboratoire d\u2019H\u00e9matologie; Reims France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Fran\u00e7oise","family":"Hurtaud-Roux","sequence":"additional","affiliation":[{"name":"Service d\u2019H\u00e9matologie Biologique; H\u00f4pital Robert Debr\u00e9; Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V\u00e9ronique","family":"Latger-Cannard","sequence":"additional","affiliation":[{"name":"Service d\u2019H\u00e9matologie Biologique; CHU, Nancy, and Centre de Comp\u00e9tence des Pathologies Plaquettaires Nord-Est; France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9cile","family":"Lavenu-Bombled","sequence":"additional","affiliation":[{"name":"Service d\u2019H\u00e9matologie Biologique; CRPP, H\u00f4pital Bic\u00eatre, Assistance Publique-H\u00f4pitaux de Paris, Universit\u00e9 Paris-Sud; Le Kremlin Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Proulle","sequence":"additional","affiliation":[{"name":"Service d\u2019H\u00e9matologie Biologique; CRPP, H\u00f4pital Bic\u00eatre, Assistance Publique-H\u00f4pitaux de Paris, Universit\u00e9 Paris-Sud; Le Kremlin Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandrine","family":"Meunier","sequence":"additional","affiliation":[{"name":"Unit\u00e9 d\u2019H\u00e9mostase Clinique; CHU de Lyon; Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claude","family":"N\u00e9grier","sequence":"additional","affiliation":[{"name":"Unit\u00e9 d\u2019H\u00e9mostase Clinique; H\u00f4pital Edouard Herriot; Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan","family":"Nurden","sequence":"additional","affiliation":[{"name":"Institut de Rythmologie et Mod\u00e9lisation Cardiaque (LIRYC); Plateforme Technologique et d\u2019Innovation Biom\u00e9dicale; H\u00f4pital Xavier Arnozan; Pessac France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanitra","family":"Randrianaivo","sequence":"additional","affiliation":[{"name":"Medical Genetic Unit, P\u00f4le Femme-M\u00e8re-Enfant; Centre Hospitalier Universitaire, Saint-Pierre; La R\u00e9union France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabrizio","family":"Fabris","sequence":"additional","affiliation":[{"name":"Department of Medicine-DIMED; University of Padova; Padua Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Platokouki","sequence":"additional","affiliation":[{"name":"Haemophilia Centre\/Haemostasis Unit \u201cAghia Sophia\u201d; Children's Hospital; Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nurit","family":"Rosenberg","sequence":"additional","affiliation":[{"name":"Amalia Biron Research Institute of Thrombosis and Hemostasis; Sheba Medical Center; Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Basma","family":"HadjKacem","sequence":"additional","affiliation":[{"name":"Centre de Biotechnologie de Sfax; Sfax University; Sfax Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula G.","family":"Heller","sequence":"additional","affiliation":[{"name":"Hematolog\u00eda Investigaci\u00f3n, Instituto de Investigaciones M\u00e9dicas A. Lanari, Universidad de Buenos Aires. CONICET; Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehran","family":"Karimi","sequence":"additional","affiliation":[{"name":"Hematology Research Center; Shiraz University of Medical Sciences; Shiraz Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo L.","family":"Balduini","sequence":"additional","affiliation":[{"name":"IRCCS Policlinico San Matteo Foundation - University of Pavia; Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annalisa","family":"Pastore","sequence":"additional","affiliation":[{"name":"King's College London, Dept. of Clinical Neuroscience; Denmark Hill Campus; London"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francois","family":"Lanza","sequence":"additional","affiliation":[{"name":"INSERM UMR S_949, Strasbourg, France; EFS-Alsace, Strasbourg, France; Universit\u00e9 de Strasbourg, Strasbourg; France; Centre de Comp\u00e9tence des Pathologies Plaquettaires Nord-Est; France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,7,15]]},"reference":[{"key":"10.1002\/humu.22607-BIB0001|humu22607-cit-0001","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1080\/09537100701191323","article-title":"Genetic characterization of patients with Bernard-Soulier syndrome and their relatives from Southern Iran","volume":"18","author":"Afrasiabi","year":"2007","journal-title":"Platelets"},{"key":"10.1002\/humu.22607-BIB0002|humu22607-cit-0002","doi-asserted-by":"crossref","first-page":"2634","DOI":"10.1182\/blood.V90.7.2634","article-title":"Bernard-Soulier syndrome caused by a dinucleotide deletion and reading frameshift in the region encoding the glycoprotein Ib alpha transmembrane domain","volume":"90","author":"Afshar-Kharghan","year":"1997","journal-title":"Blood"},{"key":"10.1002\/humu.22607-BIB0003|humu22607-cit-0003","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1182\/blood.V94.1.186.413k19_186_191","article-title":"Kozak sequence polymorphism of the glycoprotein (GP) Ibalpha gene is a major determinant of the plasma membrane levels of the platelet GP Ib-IX-V complex","volume":"94","author":"Afshar-Kharghan","year":"1999","journal-title":"Blood"},{"key":"10.1002\/humu.22607-BIB0004|humu22607-cit-0004","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1046\/j.1365-2141.2000.02261.x","article-title":"Bernard-Soulier syndrome in a patient doubly heterozygous for two frameshift mutations in the glycoprotein Ib alpha gene","volume":"110","author":"Afshar-Kharghan","year":"2000","journal-title":"Br J Haematol"},{"key":"10.1002\/humu.22607-BIB0005|humu22607-cit-0005","doi-asserted-by":"crossref","first-page":"735","DOI":"10.1038\/ng.885","article-title":"Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome","volume":"43","author":"Albers","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22607-BIB0006|humu22607-cit-0006","doi-asserted-by":"crossref","first-page":"571","DOI":"10.3109\/09537104.2012.748186","article-title":"Molecular pathology of Bernard-Soulier syndrome in Indian patients","volume":"24","author":"Ali","year":"2013","journal-title":"Platelets"},{"key":"10.1002\/humu.22607-BIB0007|humu22607-cit-0007","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1007\/s00277-013-1895-x","article-title":"Novel genetic abnormalities in Bernard-Soulier syndrome in India","volume":"93","author":"Ali","year":"2014","journal-title":"Ann Hematol"},{"key":"10.1002\/humu.22607-BIB0008|humu22607-cit-0008","doi-asserted-by":"crossref","first-page":"638","DOI":"10.1021\/bi970893g","article-title":"Binding of purified 14-3-3 zeta signaling protein to discrete amino acid sequences within the cytoplasmic domain of the platelet membrane glycoprotein Ib-IX-V complex","volume":"37","author":"Andrews","year":"1998","journal-title":"Biochemistry"},{"key":"10.1002\/humu.22607-BIB0009|humu22607-cit-0009","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1002\/1096-8652(200010)65:2<141::AID-AJH9>3.0.CO;2-H","article-title":"Bernard-Soulier syndrome: common ancestry in two African American families with the GP Ib alpha Leu129Pro mutation","volume":"65","author":"Antonucci","year":"2000","journal-title":"Am J Hematol"},{"key":"10.1002\/humu.22607-BIB0010|humu22607-cit-0010","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1111\/j.1538-7836.2008.03255.x","article-title":"Proplatelet formation in heterozygous Bernard-Soulier syndrome type Bolzano","volume":"7","author":"Balduini","year":"2009","journal-title":"J Thromb Haemost"},{"key":"10.1002\/humu.22607-BIB0011|humu22607-cit-0011","doi-asserted-by":"crossref","first-page":"308","DOI":"10.3109\/09537104.2010.547960","article-title":"Megakaryocytes derived from patients with the classical form of Bernard-Soulier syndrome show no ability to extend proplatelets in vitro","volume":"22","author":"Balduini","year":"2011a","journal-title":"Platelets"},{"key":"10.1002\/humu.22607-BIB0012|humu22607-cit-0012","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1111\/j.1365-2141.2011.08716.x","article-title":"Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias","volume":"154","author":"Balduini","year":"2011b","journal-title":"Br J Haematol"},{"key":"10.1002\/humu.22607-BIB0013|humu22607-cit-0013","doi-asserted-by":"crossref","first-page":"1821","DOI":"10.1007\/s00439-012-1215-x","article-title":"Genetics of familial forms of thrombocytopenia","volume":"131","author":"Balduini","year":"2012","journal-title":"Hum Genet"},{"key":"10.1002\/humu.22607-BIB0014|humu22607-cit-0014","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1055\/s-0032-1333540","article-title":"Diagnosis and management of inherited thrombocytopenias","volume":"39","author":"Balduini","year":"2013a","journal-title":"Semin Thromb Hemost"},{"key":"10.1002\/humu.22607-BIB0015|humu22607-cit-0015","doi-asserted-by":"crossref","first-page":"1006","DOI":"10.1111\/jth.12196","article-title":"Inherited thrombocytopenias frequently diagnosed in adults","volume":"11","author":"Balduini","year":"2013b","journal-title":"J Thromb Haemost"},{"key":"10.1002\/humu.22607-BIB0016|humu22607-cit-0016","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1160\/TH11-05-0305","article-title":"Deletion of human GP1BB and SEPT5 is associated with Bernard-Soulier syndrome, platelet secretion defect, polymicrogyria, and developmental delay","volume":"106","author":"Bartsch","year":"2011","journal-title":"Thromb Haemost"},{"key":"10.1002\/humu.22607-BIB0017|humu22607-cit-0017","doi-asserted-by":"crossref","first-page":"5565","DOI":"10.1074\/jbc.M113.511220","article-title":"Structural basis of regulation of von Willebrand factor binding to glycoprotein Ib","volume":"289","author":"Blenner","year":"2014","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.22607-BIB0018|humu22607-cit-0018","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1097\/01.mbc.0000233372.33852.12","article-title":"Molecular genetics and transfusion management in a child with Bernard-Soulier syndrome","volume":"17","author":"Bowers","year":"2006","journal-title":"Blood Coagul Fibrinolysis"},{"key":"10.1002\/humu.22607-BIB0019|humu22607-cit-0019","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1093\/hmg\/4.4.763","article-title":"Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge\/velo-cardio-facial chromosomal region in 22q11.2","volume":"4","author":"Budarf","year":"1995","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.22607-BIB0020|humu22607-cit-0020","doi-asserted-by":"crossref","first-page":"1124","DOI":"10.1182\/blood.V84.4.1124.1124","article-title":"Variant Bernard-Soulier syndrome associated with a homozygous mutation in the leucine-rich domain of glycoprotein IX","volume":"84","author":"Clemetson","year":"1994","journal-title":"Blood"},{"key":"10.1002\/humu.22607-BIB0021|humu22607-cit-0021","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1159\/000107926","article-title":"First Turkish case of Bernard-Soulier syndrome associated with GPIX N45S","volume":"118","author":"Dagistan","year":"2007","journal-title":"Acta Haematol"},{"key":"10.1002\/humu.22607-BIB0022|humu22607-cit-0022","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1111\/j.1365-2141.1995.tb03316.x","article-title":"A three-base deletion removing a leucine residue in a leucine-rich repeat of platelet glycoprotein Ib alpha associated with a variant of Bernard-Soulier syndrome (Nancy I)","volume":"89","author":"De la Salle","year":"1995","journal-title":"Br J Haematol"},{"key":"10.1002\/humu.22607-BIB0023|humu22607-cit-0023","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1172\/JCI114692","article-title":"Variant Bernard-Soulier syndrome type bolzano. A congenital bleeding disorder due to a structural and functional abnormality of the platelet glycoprotein Ib-IX complex","volume":"86","author":"De Marco","year":"1990","journal-title":"J Clin Invest"},{"key":"10.1002\/humu.22607-BIB0024|humu22607-cit-0024","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1111\/j.1600-0609.1996.tb01357.x","article-title":"Recurrent mutation Asn45>Ser of glycoprotein IX in Bernard-Soulier syndrome","volume":"57","author":"Donner","year":"1996","journal-title":"Eur J Haematol"},{"key":"10.1002\/humu.22607-BIB0025|humu22607-cit-0025","doi-asserted-by":"crossref","first-page":"1022","DOI":"10.3324\/haematol.2014.104224","article-title":"Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology","volume":"99","author":"De Rocco","year":"2014","journal-title":"Haematologica"},{"key":"10.1002\/humu.22607-BIB0026|humu22607-cit-0026","first-page":"5313","article-title":"First case of platelet-type Von Willebrand disease (PT-VWD) asociated with type 2B Von Willebrand disease (2B VWD)","author":"Dreyfus","year":"2011","journal-title":"American Society of Hematology, Annual Meeting 2011"},{"key":"10.1002\/humu.22607-BIB0027|humu22607-cit-0027","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1002\/ajh.20236","article-title":"Compound heterozygosity for a novel nine-nucleotide deletion and the Asn45Ser missense mutation in the glycoprotein IX gene in a patient with Bernard-Soulier syndrome","volume":"78","author":"Drouin","year":"2005","journal-title":"Am J Hematol"},{"key":"10.1002\/humu.22607-BIB0028|humu22607-cit-0028","doi-asserted-by":"crossref","first-page":"7362","DOI":"10.1074\/jbc.271.13.7362","article-title":"Identification of a binding sequence for the 14-3-3 protein within the cytoplasmic domain of the adhesion receptor, platelet glycoprotein Ib alpha","volume":"271","author":"Du","year":"1996","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.22607-BIB0029|humu22607-cit-0029","doi-asserted-by":"crossref","first-page":"946","DOI":"10.1160\/TH12-04-0189","article-title":"A novel D235Y mutation in the GP1BA gene enhances platelet interaction with von Willebrand factor in an Iranian family with platelet-type von Willebrand disease","volume":"108","author":"Enayat","year":"2012","journal-title":"Thromb Haemost"},{"key":"10.1002\/humu.22607-BIB0030|humu22607-cit-0030","doi-asserted-by":"crossref","first-page":"1653","DOI":"10.1111\/j.1538-7836.2012.04805.x","article-title":"International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country","volume":"10","author":"Glembotsky","year":"2012","journal-title":"J Thromb Haemost"},{"key":"10.1002\/humu.22607-BIB0031|humu22607-cit-0031","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1016\/j.thromres.2006.06.011","article-title":"Identification of inherited macrothrombocytopenias based on mean platelet volume among patients diagnosed with idiopathic thrombocytopenia","volume":"119","author":"Gohda","year":"2007","journal-title":"Thromb Res"},{"key":"10.1002\/humu.22607-BIB0032|humu22607-cit-0032","doi-asserted-by":"crossref","first-page":"1385","DOI":"10.1055\/s-0037-1616740","article-title":"Compound heterozygosity of the GPIbalpha gene associated with Bernard-Soulier syndrome","volume":"86","author":"Gonzalez-Manchon","year":"2001","journal-title":"Thromb Haemost"},{"key":"10.1002\/humu.22607-BIB0033|humu22607-cit-0033","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1160\/TH03-01-0026","article-title":"Disruption of the Cys5-Cys7 disulfide bridge in the platelet glycoprotein Ibbeta prevents the normal maturation and surface exposure of GPIb-IX complexes","volume":"90","author":"Gonzalez-Manchon","year":"2003","journal-title":"Thromb Haemost"},{"key":"10.1002\/humu.22607-BIB0034|humu22607-cit-0034","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1007\/s00277-008-0611-8","article-title":"Bernard-Soulier syndrome: novel nonsense mutation in GPIbbeta gene affecting GPIb-IX complex expression","volume":"88","author":"Hadjkacem","year":"2009","journal-title":"Ann Hematol"},{"key":"10.1002\/humu.22607-BIB0035|humu22607-cit-0035","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1007\/s00277-009-0763-1","article-title":"The same genetic defect in three Tunisian families with Bernard-Soulier syndrome: a probable founder Stop mutation in GPIbbeta","volume":"89","author":"Hadjkacem","year":"2010","journal-title":"Ann Hematol"},{"key":"10.1002\/humu.22607-BIB0036|humu22607-cit-0036","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1160\/TH10-08-0523","article-title":"Frequency of platelet type versus type 2B von Willebrand disease. An international registry-based study","volume":"105","author":"Hamilton","year":"2011","journal-title":"Thromb Haemost"},{"key":"10.1002\/humu.22607-BIB0037|humu22607-cit-0037","doi-asserted-by":"crossref","first-page":"1026","DOI":"10.1055\/s-0037-1613350","article-title":"A novel hemizygous Bernard-Soulier Syndrome (BSS) mutation in the amino terminal domain of glycoprotein (GP)Ibbeta-platelet characterization and transfection studies","volume":"88","author":"Hillmann","year":"2002","journal-title":"Thromb Haemost"},{"key":"10.1002\/humu.22607-BIB0038|humu22607-cit-0038","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1046\/j.1365-2141.1997.1772993.x","article-title":"Bernard-Soulier syndrome Karlstad: Trp 498>Stop mutation resulting in a truncated glycoprotein Ib alpha that contains part of the transmembranous domain","volume":"98","author":"Holmberg","year":"1997","journal-title":"Br J Haematol"},{"key":"10.1002\/humu.22607-BIB0039|humu22607-cit-0039","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1097\/MBC.0b013e32832b27fa","article-title":"A novel homozygous 8-base pair deletion mutation in the glycoprotein Ibalpha gene in a patient with Bernard-Soulier syndrome","volume":"20","author":"Imai","year":"2009","journal-title":"Blood Coagul Fibrinolysis"},{"key":"10.1002\/humu.22607-BIB0040|humu22607-cit-0040","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1111\/j.1600-0609.1998.tb01035.x","article-title":"Vulnerable mutation Trp126>stop of glycoprotein IX in Japanese Bernard-Soulier syndrome","volume":"60","author":"Iwanaga","year":"1998","journal-title":"Eur J Haematol"},{"key":"10.1002\/humu.22607-BIB0041|humu22607-cit-0041","doi-asserted-by":"crossref","first-page":"1055","DOI":"10.1055\/s-0038-1656111","article-title":"Molecular and genetic analysis of two patients with Bernard-Soulier syndrome: identification of new mutations in glycoprotein Ib alpha gene","volume":"77","author":"Kanaji","year":"1997","journal-title":"Thromb Haemost"},{"key":"10.1002\/humu.22607-BIB0042|humu22607-cit-0042","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1038\/mt.2011.231","article-title":"Correction of murine Bernard-Soulier syndrome by lentivirus-mediated gene therapy","volume":"20","author":"Kanaji","year":"2012","journal-title":"Mol Ther"},{"key":"10.1002\/humu.22607-BIB0043|humu22607-cit-0043","doi-asserted-by":"crossref","first-page":"2626","DOI":"10.1182\/blood.V90.7.2626","article-title":"A dinucleotide deletion results in defective membrane anchoring and circulating soluble glycoprotein Ib alpha in a novel form of Bernard-Soulier syndrome","volume":"90","author":"Kenny","year":"1997","journal-title":"Blood"},{"key":"10.1002\/humu.22607-BIB0044|humu22607-cit-0044","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1182\/blood.V92.1.175.413a36_175_183","article-title":"Naturally occurring mutations in glycoprotein Ibalpha that result in defective ligand binding and synthesis of a truncated protein","volume":"92","author":"Kenny","year":"1998","journal-title":"Blood"},{"key":"10.1002\/humu.22607-BIB0045|humu22607-cit-0045","doi-asserted-by":"crossref","first-page":"2968","DOI":"10.1182\/blood.V93.9.2968","article-title":"The critical interaction of glycoprotein (GP) IBbeta with GPIX-a genetic cause of Bernard-Soulier syndrome","volume":"93","author":"Kenny","year":"1999","journal-title":"Blood"},{"key":"10.1002\/humu.22607-BIB0046|humu22607-cit-0046","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1111\/j.1600-0609.1999.tb01755.x","article-title":"Variant Bernard-Soulier syndrome due to homozygous Asn45Ser mutation in the platelet glycoprotein (GP) IX in seven patients of five unrelated Finnish families","volume":"62","author":"Koskela","year":"1999a","journal-title":"Eur J Haematol"},{"key":"10.1002\/humu.22607-BIB0047|humu22607-cit-0047","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1111\/j.1600-0609.1999.tb01739.x","article-title":"Molecular characterization of two mutations in platelet glycoprotein (GP) Ib alpha in two Finnish Bernard-Soulier syndrome families","volume":"62","author":"Koskela","year":"1999b","journal-title":"Eur J Haematol"},{"key":"10.1002\/humu.22607-BIB0048|humu22607-cit-0048","doi-asserted-by":"crossref","first-page":"3356","DOI":"10.1182\/blood.V84.10.3356.3356","article-title":"Bernard-Soulier syndrome Kagoshima: Ser 444>stop mutation of glycoprotein (GP) Ib alpha resulting in circulating truncated GPIb alpha and surface expression of GPIb beta and GPIX","volume":"84","author":"Kunishima","year":"1994","journal-title":"Blood"},{"key":"10.1002\/humu.22607-BIB0049|humu22607-cit-0049","doi-asserted-by":"crossref","first-page":"2404","DOI":"10.1182\/blood.V89.7.2404","article-title":"Missense mutations of the glycoprotein (GP) Ib beta gene impairing the GPIb alpha\/beta disulfide linkage in a family with giant platelet disorder","volume":"89","author":"Kunishima","year":"1997","journal-title":"Blood"},{"key":"10.1002\/humu.22607-BIB0050|humu22607-cit-0050","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1046\/j.1365-2141.1999.01733.x","article-title":"Cys97>Tyr mutation in the glycoprotein IX gene associated with Bernard-Soulier syndrome","volume":"107","author":"Kunishima","year":"1999","journal-title":"Br J Haematol"},{"key":"10.1002\/humu.22607-BIB0051|humu22607-cit-0051","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1055\/s-0037-1613977","article-title":"Homozygous Pro74>Arg mutation in the platelet glycoprotein Ibbeta gene associated with Bernard-Soulier syndrome","volume":"84","author":"Kunishima","year":"2000","journal-title":"Thromb Haemost"},{"key":"10.1002\/humu.22607-BIB0052|humu22607-cit-0052","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1002\/ajh.10000","article-title":"Novel heterozygous missense mutation in the platelet glycoprotein Ib beta gene associated with isolated giant platelet disorder","volume":"68","author":"Kunishima","year":"2001","journal-title":"Am J Hematol"},{"key":"10.1002\/humu.22607-BIB0053|humu22607-cit-0053","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1002\/ajh.10230","article-title":"Novel nonsense mutation in the platelet glycoprotein Ibbeta gene associated with Bernard-Soulier syndrome","volume":"71","author":"Kunishima","year":"2002","journal-title":"Am J Hematol"},{"key":"10.1002\/humu.22607-BIB0054|humu22607-cit-0054","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1111\/j.1600-0609.2005.00612.x","article-title":"Novel heterozygous missense mutation in the second leucine rich repeat of GPIbalpha affects GPIb\/IX\/V expression and results in macrothrombocytopenia in a patient initially misdiagnosed with idiopathic thrombocytopenic purpura","volume":"76","author":"Kunishima","year":"2006a","journal-title":"Eur J Haematol"},{"key":"10.1002\/humu.22607-BIB0055|humu22607-cit-0055","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1111\/j.0902-4441.2006.t01-1-EJH2817.x","article-title":"Molecular genetic analysis of a variant Bernard-Soulier syndrome due to compound heterozygosity for two novel glycoprotein Ibbeta mutations","volume":"77","author":"Kunishima","year":"2006b","journal-title":"Eur J Haematol"},{"key":"10.1002\/humu.22607-BIB0056|humu22607-cit-0056","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1532\/IJH97.06017","article-title":"Bernard-Soulier syndrome due to GPIX W127X mutation in Japan is frequently misdiagnosed as idiopathic thrombocytopenic purpura","volume":"83","author":"Kunishima","year":"2006c","journal-title":"Int J Hematol"},{"key":"10.1002\/humu.22607-BIB0057|humu22607-cit-0057","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1097\/MOH.0b013e32833c069c","article-title":"Advances in the understanding of MYH9 disorders","volume":"17","author":"Kunishima","year":"2010","journal-title":"Curr Opin Hematol"},{"key":"10.1002\/humu.22607-BIB0058|humu22607-cit-0058","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1111\/ped.12105","article-title":"Bernard-Soulier syndrome caused by a hemizygous GPIb\u03b2 mutation and 22q11.2 deletion","volume":"55","author":"Kunishima","year":"2013a","journal-title":"Pediatr Int"},{"key":"10.1002\/humu.22607-BIB0059|humu22607-cit-0059","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1016\/j.ajhg.2013.01.015","article-title":"ACTN1 mutations cause congenital macrothrombocytopenia","volume":"92","author":"Kunishima","year":"2013b","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22607-BIB0060|humu22607-cit-0060","doi-asserted-by":"crossref","first-page":"1249","DOI":"10.1055\/s-0037-1616058","article-title":"A missense mutation (Tyr88 to Cys) in the platelet membrane glycoprotein Ibbeta gene affects GPIb\/IX complex expression-Bernard-Soulier syndrome in the homozygous form and giant platelets in the heterozygous form","volume":"86","author":"Kurokawa","year":"2001","journal-title":"Thromb Haemost"},{"key":"10.1002\/humu.22607-BIB0061|humu22607-cit-0061","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1046\/j.1365-2141.2002.03544.x","article-title":"A Leu7Pro mutation in the signal peptide of platelet glycoprotein (GP)IX in a case of Bernard-Soulier syndrome abolishes surface expression of the GPIb-V-IX complex","volume":"118","author":"Lanza","year":"2002","journal-title":"Br J Haematol"},{"key":"10.1002\/humu.22607-BIB0062|humu22607-cit-0062","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/jth.12284","article-title":"Founder effect for a novel GPIBB mutation in Bernard-Soulier patients from La R\u00e9union island. Abstracts of the XXIV Congress of the International Society on Thrombosis and Haemostasis","volume":"11","author":"Lanza","year":"2013","journal-title":"J Thromb Haemost"},{"key":"10.1002\/humu.22607-BIB0063|humu22607-cit-0063","doi-asserted-by":"crossref","first-page":"3805","DOI":"10.1182\/blood.V86.10.3805.bloodjournal86103805","article-title":"The genetic defect in two well-studied cases of Bernard-Soulier syndrome: a point mutation in the fifth leucine-rich repeat of platelet glycoprotein Ib alpha","volume":"86","author":"Li","year":"1995","journal-title":"Blood"},{"key":"10.1002\/humu.22607-BIB0064|humu22607-cit-0064","doi-asserted-by":"crossref","first-page":"670","DOI":"10.1055\/s-0038-1650640","article-title":"Bernard-Soulier syndrome with severe bleeding: absent platelet glycoprotein Ib alpha due to a homozygous one-base deletion","volume":"76","author":"Li","year":"1996","journal-title":"Thromb Haemost"},{"key":"10.1002\/humu.22607-BIB0065|humu22607-cit-0065","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1111\/jth.12144","article-title":"The organizing principle of the platelet glycoprotein Ib-IX-V complex","volume":"11","author":"Li","year":"2013","journal-title":"J Thromb Haemost"},{"key":"10.1002\/humu.22607-BIB0066|humu22607-cit-0066","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1160\/TH05-03-0165","article-title":"A common ancestral glycoprotein (GP) 9 1828A>G (Asn45Ser) gene mutation occurring in European families from Australia and Northern Europe with Bernard-Soulier syndrome (BSS)","volume":"94","author":"Liang","year":"2005","journal-title":"Thromb Haemost"},{"key":"10.1002\/humu.22607-BIB0067|humu22607-cit-0067","doi-asserted-by":"crossref","first-page":"1298","DOI":"10.1160\/TH07-05-0350","article-title":"eterozygous loss of platelet glycoprotein (GP) Ib-V-IX variably affects platelet function in velocardiofacial syndrome (VCFS) patients","volume":"98","author":"Liang","year":"2007","journal-title":"Thromb Haemost"},{"key":"10.1002\/humu.22607-BIB0068|humu22607-cit-0068","doi-asserted-by":"crossref","first-page":"10055","DOI":"10.1016\/S0021-9258(19)50199-5","article-title":"Polymorphism of human glycoprotein Ib alpha results from a variable number of tandem repeats of a 13-amino acid sequence in the mucin-like macroglycopeptide region. Structure\/function implications","volume":"267","author":"L\u00f3pez","year":"1992","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.22607-BIB0069|humu22607-cit-0069","doi-asserted-by":"crossref","first-page":"4397","DOI":"10.1182\/blood.V91.12.4397","article-title":"Bernard-Soulier syndrome","volume":"91","author":"L\u00f3pez","year":"1998","journal-title":"Blood"},{"key":"10.1002\/humu.22607-BIB0070|humu22607-cit-0070","doi-asserted-by":"crossref","first-page":"22076","DOI":"10.1074\/jbc.271.36.22076","article-title":"Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome","volume":"271","author":"Ludlow","year":"1996","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.22607-BIB0071|humu22607-cit-0071","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1182\/blood-2006-05-024091","article-title":"Glycoprotein Ibalpha forms disulfide bonds with 2 glycoprotein Ibbeta subunits in the resting platelet","volume":"109","author":"Luo","year":"2007","journal-title":"Blood"},{"key":"10.1002\/humu.22607-BIB0072|humu22607-cit-0072","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1097\/MBC.0b013e32835187e2","article-title":"Novel mutation in the glycoprotein Ib\u03b2 in a patient with Bernard-Soulier syndrome: possibility of distant parental consanguinity","volume":"23","author":"Mahfouz","year":"2012","journal-title":"Blood Coagul Fibrinolysis"},{"key":"10.1002\/humu.22607-BIB0073|humu22607-cit-0073","doi-asserted-by":"crossref","first-page":"1550","DOI":"10.1111\/j.1538-7836.2009.03530.x","article-title":"dentification of five novel 14-3-3 isoforms interacting with the GPIb-IX complex in platelets","volume":"7","author":"Mangin","year":"2009","journal-title":"J Thromb Haemost"},{"key":"10.1002\/humu.22607-BIB0074|humu22607-cit-0074","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1055\/s-0037-1614510","article-title":"Compound heterozygosity (554-589 del, C515-T transition) in the platelet glycoprotein Ib alpha gene in a patient with a severe bleeding tendency","volume":"81","author":"Margaglione","year":"1999","journal-title":"Thromb Haemost"},{"key":"10.1002\/humu.22607-BIB0122|humu22607-cit-0122","doi-asserted-by":"crossref","first-page":"5292","DOI":"10.1182\/blood-2011-05-356253","article-title":"Quaternary organization of GPIb-IX complex and insights into Bernard-Soulier syndrome revealed by the structures of GPIb\u03b2 and a GPIb\u03b2\/GPIX chimera","volume":"118","author":"McEwan","year":"2011","journal-title":"Blood"},{"key":"10.1002\/humu.22607-BIB0075|humu22607-cit-0075","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1182\/blood.V79.2.439.439","article-title":"Mutation of leucine-57 to phenylalanine in a platelet glycoprotein Ib alpha leucine tandem repeat occurring in patients with an autosomal dominant variant of Bernard-Soulier disease","volume":"79","author":"Miller","year":"1992","journal-title":"Blood"},{"key":"10.1002\/humu.22607-BIB0076|humu22607-cit-0076","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1097\/00043426-199805000-00011","article-title":"Severe bleeding tendency in a patient with Bernard-Soulier syndrome associated with a homozygous single base pair deletion in the gene coding for the human platelet glycoprotein Ibalpha","volume":"20","author":"Mitsui","year":"1998","journal-title":"J Pediatr Hematol Oncol"},{"key":"10.1002\/humu.22607-BIB0077|humu22607-cit-0077","doi-asserted-by":"crossref","first-page":"1693","DOI":"10.1182\/blood-2013-04-495267","article-title":"BSS misdiagnosed as ITP","volume":"122","author":"Moiz","year":"2013","journal-title":"Blood"},{"key":"10.1002\/humu.22607-BIB0078|humu22607-cit-0078","doi-asserted-by":"crossref","first-page":"532","DOI":"10.1182\/blood.V96.2.532","article-title":"Surface expression of glycoprotein Ib alpha is dependent on glycoprotein Ib beta: evidence from a novel mutation causing Bernard-Soulier syndrome","volume":"96","author":"Moran","year":"2000","journal-title":"Blood"},{"key":"10.1002\/humu.22607-BIB0079|humu22607-cit-0079","doi-asserted-by":"crossref","first-page":"1411","DOI":"10.1055\/s-0038-1649956","article-title":"Heterogeneous expression of glycoprotein Ib, IX and V in platelets from two patients with Bernard-Soulier syndrome caused by different genetic abnormalities","volume":"74","author":"Noda","year":"1995","journal-title":"Thromb Haemost"},{"key":"10.1002\/humu.22607-BIB0080|humu22607-cit-0080","doi-asserted-by":"crossref","first-page":"874","DOI":"10.1055\/s-0038-1650678","article-title":"A point mutation in glycoprotein IX coding sequence (Cys73 (TGT) to Tyr(TAT)) causes impaired surface expression of GPIb\/IX\/V complex in two families with Bernard-Soulier syndrome","volume":"76","author":"Noda","year":"1996","journal-title":"Thromb Haemost"},{"key":"10.1002\/humu.22607-BIB0081|humu22607-cit-0081","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1046\/j.1365-2141.1997.582706.x","article-title":"A phenylalanine-55 to serine amino-acid substitution in the human glycoprotein IX leucine-rich repeat is associated with Bernard-Soulier syndrome","volume":"97","author":"Noris","year":"1997","journal-title":"Br J Haematol"},{"key":"10.1002\/humu.22607-BIB0082|humu22607-cit-0082","doi-asserted-by":"crossref","first-page":"1004","DOI":"10.1046\/j.1365-2141.1998.01100.x","article-title":"A new variant of Bernard-Soulier syndrome characterized by dysfunctional glycoprotein (GP) Ib and severely reduced amounts of GPIX and GPV","volume":"103","author":"Noris","year":"1998","journal-title":"Br J Haematol"},{"key":"10.1002\/humu.22607-BIB0083|humu22607-cit-0083","first-page":"1219","article-title":"Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients","volume":"89","author":"Noris","year":"2004","journal-title":"Haematologica"},{"key":"10.1002\/humu.22607-BIB0084|humu22607-cit-0084","doi-asserted-by":"crossref","first-page":"82","DOI":"10.3324\/haematol.2011.050682","article-title":"Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIb{alpha} (Bolzano mutation)","volume":"97","author":"Noris","year":"2012","journal-title":"Haematologica"},{"key":"10.1002\/humu.22607-BIB0085|humu22607-cit-0085","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1111\/bjh.12349","article-title":"Italian Gruppo di Studio delle Piastrine","volume":"162","author":"Noris","year":"2013","journal-title":"Br J Haematol"},{"key":"10.1002\/humu.22607-BIB0086|humu22607-cit-0086","doi-asserted-by":"crossref","first-page":"716","DOI":"10.1046\/j.1365-2141.2003.04132_1.x","article-title":"Heterozygotes in the Bernard-Soulier syndrome do not necessarily have giant platelets or thrombocytopenia","volume":"120","author":"Nurden","year":"2003","journal-title":"Br J Haematol"},{"key":"10.1002\/humu.22607-BIB0087|humu22607-cit-0087","doi-asserted-by":"crossref","first-page":"4330","DOI":"10.1182\/blood-2002-09-2942","article-title":"Identification and functional characterization of a novel 27-bp deletion in the macroglycopeptide-coding region of the GPIBA gene resulting in platelet-type von Willebrand disease","volume":"105","author":"Othman","year":"2005","journal-title":"Blood"},{"key":"10.1002\/humu.22607-BIB0088|humu22607-cit-0088","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1016\/j.blre.2011.03.003","article-title":"Platelet-type Von Willebrand disease: Three decades in the life of a rare bleeding disorder","volume":"25","author":"Othman","year":"2011","journal-title":"Blood Rev"},{"key":"10.1002\/humu.22607-BIB0089|humu22607-cit-0089","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1002\/ajh.21768","article-title":"Phosphatidylserine exposure and other apoptotic-like events in Bernard-Soulier syndrome platelets","volume":"85","author":"Rand","year":"2010","journal-title":"Am J Hematol"},{"key":"10.1002\/humu.22607-BIB0090|humu22607-cit-0090","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1046\/j.1365-2141.2001.02529.x","article-title":"Identification of a new mutation in platelet glycoprotein IX (GPIX) in a patient with Bernard-Soulier syndrome","volume":"112","author":"Rivera","year":"2001","journal-title":"Br J Haematol"},{"key":"10.1002\/humu.22607-BIB0091|humu22607-cit-0091","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1111\/j.1538-7836.2007.02298.x","article-title":"Trp207Gly in platelet glycoprotein Ibalpha is a novel mutation that disrupts the connection between the leucine-rich repeat domain and the disulfide loop structure and causes Bernard-Soulier syndrome","volume":"5","author":"Rosenberg","year":"2007","journal-title":"J Thromb Haemost"},{"key":"10.1002\/humu.22607-BIB0092|humu22607-cit-0092","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1046\/j.1365-2141.2003.04554.x","article-title":"Bernard-Soulier syndrome due to the homozygous Asn-45Ser mutation in GPIX: an unexpected, frequent finding in Germany","volume":"123","author":"Sachs","year":"2003","journal-title":"Br J Haematol"},{"key":"10.1002\/humu.22607-BIB0093|humu22607-cit-0093","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1159\/000320255","article-title":"Novel mutation in Bernard-Soulier syndrome","volume":"37","author":"Sandrock","year":"2010","journal-title":"Transfus Med Hemother"},{"key":"10.1002\/humu.22607-BIB0094|humu22607-cit-0094","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1159\/000351057","article-title":"Bernard-Soulier syndrome due to compound heterozygosity for a novel glycoprotein Ib\u03b2 mutation","volume":"131","author":"Sato","year":"2014","journal-title":"Acta Haematol"},{"key":"10.1002\/humu.22607-BIB0095|humu22607-cit-0095","doi-asserted-by":"crossref","first-page":"1330","DOI":"10.1182\/blood.V97.5.1330","article-title":"Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome","volume":"97","author":"Savoia","year":"2001","journal-title":"Blood"},{"key":"10.1002\/humu.22607-BIB0096|humu22607-cit-0096","doi-asserted-by":"crossref","first-page":"417","DOI":"10.3324\/haematol.2010.032631","article-title":"Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype\/phenotype correlations","volume":"96","author":"Savoia","year":"2011","journal-title":"Haematologica"},{"key":"10.1002\/humu.22607-BIB0097|humu22607-cit-0097","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1055\/s-0038-1648887","article-title":"Identification of a homozygous single base pair deletion in the gene coding for the human platelet glycoprotein Ib alpha causing Bernard-Soulier syndrome","volume":"72","author":"Simsek","year":"1994a","journal-title":"Thromb Haemost"},{"key":"10.1002\/humu.22607-BIB0098|humu22607-cit-0098","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1111\/j.1365-2141.1994.tb05125.x","article-title":"Cys209 Ser mutation in the platelet membrane glycoprotein Ib alpha gene is associated with Bernard-Soulier syndrome","volume":"88","author":"Simsek","year":"1994b","journal-title":"Br J Haematol"},{"key":"10.1002\/humu.22607-BIB0099|humu22607-cit-0099","doi-asserted-by":"crossref","first-page":"4452","DOI":"10.1021\/bi026213d","article-title":"A novel missense mutation shows that GPIbbeta has a dual role in controlling the processing and stability of the platelet GPIb-IX adhesion receptor","volume":"42","author":"Strassel","year":"2003","journal-title":"Biochemistry"},{"key":"10.1002\/humu.22607-BIB0100|humu22607-cit-0100","doi-asserted-by":"crossref","first-page":"1663","DOI":"10.1111\/j.1538-7836.2004.00895.x","article-title":"A 13 base pair deletion in the GPIbbeta gene in a second unrelated Bernard-Soulier family due to slipped mispairing between direct repeats","volume":"2","author":"Strassel","year":"2004","journal-title":"J Thromb Haemost"},{"key":"10.1002\/humu.22607-BIB0101|humu22607-cit-0101","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1111\/j.1538-7836.2005.01654.x","article-title":"Synthesis of GPIb beta with novel transmembrane and cytoplasmic sequences in a Bernard-Soulier patient resulting in GPIb-defective signaling in CHO cells","volume":"4","author":"Strassel","year":"2006","journal-title":"J Thromb Haemost"},{"key":"10.1002\/humu.22607-BIB0102|humu22607-cit-0102","doi-asserted-by":"crossref","first-page":"1590","DOI":"10.1111\/j.1538-7836.2011.04417.x","article-title":"Molecular basis of Bernard-Soulier syndrome in 27 patients from India","volume":"9","author":"Sumitha","year":"2011","journal-title":"J Thromb Haemost"},{"key":"10.1002\/humu.22607-BIB0103|humu22607-cit-0103","doi-asserted-by":"crossref","first-page":"794","DOI":"10.1046\/j.1365-2141.1997.4753275.x","article-title":"Novel point mutation in the leucine-rich motif of the platelet glycoprotein IX associated with Bernard-Soulier syndrome","volume":"99","author":"Suzuki","year":"1997","journal-title":"Br J Haematol"},{"key":"10.1002\/humu.22607-BIB0104|humu22607-cit-0104","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1016\/S0049-3848(99)00047-X","article-title":"Phenotypic consequence of the gene abnormality in the platelet glycoprotein IX gene observed in a patient with Bernard-Soulier syndrome through mammalian cell expression system","volume":"95","author":"Suzuki","year":"1999","journal-title":"Thromb Res"},{"key":"10.1002\/humu.22607-BIB0105|humu22607-cit-0105","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1007\/s12185-012-1216-5","article-title":"Platelets with a W127X mutation in GPIX express sufficient residual amounts of GPIb\u03b1 to support adhesion to von Willebrand factor and collagen","volume":"96","author":"Takata","year":"2012","journal-title":"Int J Hematol"},{"key":"10.1002\/humu.22607-BIB0106|humu22607-cit-0106","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1160\/TH04-02-0071","article-title":"Mutation in the leucine-rich repeat C-flanking region of platelet glycoprotein Ib beta impairs assembly of von Willebrand factor receptor","volume":"92","author":"Tang","year":"2004","journal-title":"Thromb Haemost"},{"key":"10.1002\/humu.22607-BIB0107|humu22607-cit-0107","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1080\/0953710031000092848","article-title":"Recurrent mutation Trp126> stop of glycoprotein IX in Japanese Bernard-Soulier syndrome","volume":"14","author":"Toyohama","year":"2003","journal-title":"Platelets"},{"key":"10.1002\/humu.22607-BIB0108|humu22607-cit-0108","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1055\/s-0037-1613976","article-title":"Role of the leucine-rich domain of platelet GPIbalpha in correct post-translational processing-the Nancy I Bernard-Soulier mutation expressed on CHO cells","volume":"84","author":"Ulsemer","year":"2000","journal-title":"Thromb Haemost"},{"key":"10.1002\/humu.22607-BIB0109|humu22607-cit-0109","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1042\/0264-6021:3580295","article-title":"Biosynthesis and post-translational processing of normal and mutant platelet glycoprotein GPIb-IX","volume":"358","author":"Ulsemer","year":"2001","journal-title":"Biochem J"},{"key":"10.1002\/humu.22607-BIB0110|humu22607-cit-0110","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1080\/09537100020047101","article-title":"Occurrence of the Asn45Ser mutation in the GPIX gene in a Belgian patient with Bernard-Soulier syndrome","volume":"12","author":"Vanhoorelbeke","year":"2001","journal-title":"Platelets"},{"key":"10.1002\/humu.22607-BIB0111|humu22607-cit-0111","doi-asserted-by":"crossref","first-page":"1743","DOI":"10.3324\/haematol.12830","article-title":"Novel point mutation in a leucine-rich repeat of the GPIbalpha chain of the platelet von Willebrand factor receptor, GPIb\/IX\/V, resulting in an inherited dominant form of Bernard-Soulier syndrome affecting two unrelated families: the N41H variant","volume":"93","author":"Vettore","year":"2008a","journal-title":"Haematologica"},{"key":"10.1002\/humu.22607-BIB0112|humu22607-cit-0112","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1080\/09537100801949976","article-title":"A case of Bernard-Soulier syndrome due to a homozygous four bases deletion (TGAG) of GPIbalpha gene: lack of GPIbalpha but absence of bleeding","volume":"19","author":"Vettore","year":"2008b","journal-title":"Platelets"},{"key":"10.1002\/humu.22607-BIB0113|humu22607-cit-0113","doi-asserted-by":"crossref","first-page":"1878","DOI":"10.3324\/haematol.2010.039008","article-title":"A A386G biallelic GPIb\u03b1 gene mutation with anomalous behavior: a new mechanism suggested for Bernard-Soulier syndrome pathogenesis","volume":"96","author":"Vettore","year":"2011","journal-title":"Haematologica"},{"key":"10.1002\/humu.22607-BIB0114|humu22607-cit-0114","doi-asserted-by":"crossref","first-page":"2026","DOI":"10.1073\/pnas.87.5.2026","article-title":"Nonsense mutation in the glycoprotein Ib alpha coding sequence associated with Bernard-Soulier syndrome","volume":"87","author":"Ware","year":"1990","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.22607-BIB0115|humu22607-cit-0115","doi-asserted-by":"crossref","first-page":"1213","DOI":"10.1172\/JCI116692","article-title":"Point mutation in a leucine-rich repeat of platelet glycoprotein Ib alpha resulting in the Bernard-Soulier syndrome","volume":"92","author":"Ware","year":"1993","journal-title":"J Clin Invest"},{"key":"10.1002\/humu.22607-BIB0116|humu22607-cit-0116","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1097\/00001721-200306000-00010","article-title":"Bernard-Soulier syndrome with a homozygous 13 base pair deletion in the signal peptide-coding region of the platelet glycoprotein Ib(beta) gene","volume":"14","author":"Watanabe","year":"2003","journal-title":"Blood Coagul Fibrinolysis"},{"key":"10.1002\/humu.22607-BIB0117|humu22607-cit-0117","doi-asserted-by":"crossref","first-page":"2339","DOI":"10.1182\/blood.V81.9.2339.2339","article-title":"Double heterozygosity for mutations in the platelet glycoprotein IX gene in three siblings with Bernard-Soulier syndrome","volume":"81","author":"Wright","year":"1993","journal-title":"Blood"},{"key":"10.1002\/humu.22607-BIB0118|humu22607-cit-0118","doi-asserted-by":"crossref","first-page":"1268","DOI":"10.1182\/blood.V92.4.1268","article-title":"A novel human actin-binding protein homologue that binds to platelet glycoprotein Ibalpha","volume":"92","author":"Xu","year":"1998","journal-title":"Blood"},{"key":"10.1002\/humu.22607-BIB0119|humu22607-cit-0119","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1111\/j.1365-2141.2010.08241.x","article-title":"Single novel mutation in transmembrane region of glycoprotein (GP) IX affects GP Ib- IX complex expression and causes Bernard-Soulier syndrome","volume":"150","author":"Xu","year":"2010","journal-title":"Br J Haematol"},{"key":"10.1002\/humu.22607-BIB0120|humu22607-cit-0120","doi-asserted-by":"crossref","first-page":"e160","DOI":"10.1016\/j.thromres.2013.01.014","article-title":"Novel Bernard-Soulier syndrome variants caused by compound heterozygous mutations (case I) or a cytoplasmic tail truncation (case II) of GPIb\u03b1","volume":"131","author":"Yamamoto","year":"2013","journal-title":"Thromb Res"},{"key":"10.1002\/humu.22607-BIB0121|humu22607-cit-0121","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1055\/s-0037-1617027","article-title":"A large Swiss family with Bernard-Soulier syndrome-Correlation phenotype and genotype","volume":"29","author":"Zieger","year":"2009","journal-title":"Hamostaseologie"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.22607","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1002\/humu.22607\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T11:55:40Z","timestamp":1672314940000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.22607"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,7,15]]},"references-count":122,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2014,9]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.22607","relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2014,7,15]]}}}