{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,25]],"date-time":"2026-07-25T04:21:34Z","timestamp":1784953294992,"version":"3.55.0"},"reference-count":30,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[1999,8,1]],"date-time":"1999-08-01T00:00:00Z","timestamp":933465600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[1999,8,1]],"date-time":"1999-08-01T00:00:00Z","timestamp":933465600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Blood Cells, Molecules, and Diseases"],"published-print":{"date-parts":[[1999,8]]},"DOI":"10.1006\/bcmd.1999.0247","type":"journal-article","created":{"date-parts":[[2002,10,6]],"date-time":"2002-10-06T17:58:25Z","timestamp":1033927105000},"page":"218-226","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":10,"title":["Unique and Recurrent WAS Gene Mutations in Wiskott-Aldrich Syndrome and X-Linked Thrombocytopenia"],"prefix":"10.1006","volume":"25","author":[{"given":"Lisa J","family":"Thompson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel R.A","family":"Lalloz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.Mark","family":"Layton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1006\/bcmd.1999.0247_RF1","doi-asserted-by":"crossref","first-page":"1127","DOI":"10.1093\/hmg\/4.7.1127","article-title":"WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia","volume":"4","author":"Derry","year":"1995","journal-title":"Hum Mol Genet"},{"key":"10.1006\/bcmd.1999.0247_RF2","doi-asserted-by":"crossref","first-page":"1119","DOI":"10.1093\/hmg\/4.7.1119","article-title":"Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus","volume":"4","author":"Kolluri","year":"1995","journal-title":"Hum Mol Genet"},{"key":"10.1006\/bcmd.1999.0247_RF3","doi-asserted-by":"crossref","first-page":"1995","DOI":"10.1093\/hmg\/4.10.1995","article-title":"Scanning of the Wiskott- Aldrich syndrome (WAS) gene: identification of 18 novel alterations including a possible mutation hotspot at Arg86 resulting in thrombocytopenia, a mild WAS phenotype","volume":"4","author":"Kwan","year":"1995","journal-title":"Hum Mol Genet"},{"key":"10.1006\/bcmd.1999.0247_RF4","doi-asserted-by":"crossref","first-page":"3797","DOI":"10.1182\/blood.V86.10.3797.bloodjournal86103797","article-title":"The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene","volume":"86","author":"Zhu","year":"1995","journal-title":"Blood"},{"key":"10.1006\/bcmd.1999.0247_RF5","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1007\/s004390050285","article-title":"Identification of WASP mutations, mutation hotspots and genotype-phenotype disparities in 24 patients with Wiskott-Aldrich syndrome","volume":"98","author":"Greer","year":"1996","journal-title":"Hum Genet"},{"key":"10.1006\/bcmd.1999.0247_RF6","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1007\/s004390050162","article-title":"Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino- terminal part of the WASP gene product","volume":"98","author":"Schindelhauer","year":"1996","journal-title":"Hum Genet"},{"key":"10.1006\/bcmd.1999.0247_RF7","doi-asserted-by":"crossref","first-page":"546","DOI":"10.1055\/s-0038-1650318","article-title":"Mutation spectrum in patients with Wiskott- Aldrich syndrome and X-linked thrombocytopenia: identification of twelve different mutations in the WASP gene","volume":"75","author":"Schwartz","year":"1996","journal-title":"Thromb Haemost"},{"key":"10.1006\/bcmd.1999.0247_RF8","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1016\/S0167-5699(96)80901-7","article-title":"WASPbase: a database of WAS- and XLT-causing mutations","volume":"17","author":"Schwarz","year":"1996","journal-title":"Immunol Today"},{"key":"10.1006\/bcmd.1999.0247_RF9","doi-asserted-by":"crossref","first-page":"2680","DOI":"10.1182\/blood.V90.7.2680","article-title":"Wiskott-Aldrich syndrome\/X-linked thrombocytopenia: WASP gene mutations, protein expression and phenotype","volume":"90","author":"Zhu","year":"1997","journal-title":"Blood"},{"key":"10.1006\/bcmd.1999.0247_RF10","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1002\/(SICI)1098-1004(1999)14:1<54::AID-HUMU7>3.0.CO;2-E","article-title":"Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes","volume":"14","author":"Lemahieu","year":"1999","journal-title":"Hum Mutat"},{"key":"10.1006\/bcmd.1999.0247_RF11","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1182\/blood.V55.2.243.243","article-title":"The Wiskott-Aldrich syndrome: studies of lymphocytes, granulocytes and platelets","volume":"55","author":"Ochs","year":"1980","journal-title":"Blood"},{"key":"10.1006\/bcmd.1999.0247_RF12","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1016\/0092-8674(94)90528-2","article-title":"Isolation of a novel gene mutated in Wiskott-Aldrich syndrome","volume":"78","author":"Derry","year":"1994","journal-title":"Cell"},{"key":"10.1006\/bcmd.1999.0247_RF13","doi-asserted-by":"crossref","unstructured":"Derry, J, MJ, Ochs, H, D, Francke, U, Erratum. Cell, 79, 923, 1994.","DOI":"10.1016\/0092-8674(94)90081-7"},{"key":"10.1006\/bcmd.1999.0247_RF14","doi-asserted-by":"crossref","first-page":"2627","DOI":"10.1172\/JCI118712","article-title":"Studies of the expression of the Wiskott-Aldrich syndrome protein","volume":"97","author":"Stewart","year":"1996","journal-title":"J Clin Invest"},{"key":"10.1006\/bcmd.1999.0247_RF15","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1016\/S0960-9822(09)00447-3","article-title":"Disease mechanism: unravelling Wiskott-Aldrich syndrome","volume":"6","author":"Kirchhausen","year":"1996","journal-title":"Curr Biol"},{"key":"10.1006\/bcmd.1999.0247_RF16","doi-asserted-by":"crossref","first-page":"26291","DOI":"10.1074\/jbc.271.42.26291","article-title":"Identification of regions of the Wiskott-Aldrich syndrome protein responsible for association with selected, Src homology 3 domains","volume":"271","author":"Finan","year":"1996","journal-title":"J Biol Chem"},{"key":"10.1006\/bcmd.1999.0247_RF17","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1016\/S0092-8674(00)81050-8","article-title":"Wiskott-Aldrich syndrome protein, a novel effector for the GTPase CDC42Hs, is implicated in actin polymerization","volume":"84","author":"Symons","year":"1996","journal-title":"Cell"},{"key":"10.1006\/bcmd.1999.0247_RF18","doi-asserted-by":"crossref","first-page":"4706","DOI":"10.1073\/pnas.92.10.4706","article-title":"Identification of mutations in the Wiskott-Aldrich syndrome gene and characterisation of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene","volume":"92","author":"Kwan","year":"1995","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1006\/bcmd.1999.0247_RF19","doi-asserted-by":"crossref","first-page":"9616","DOI":"10.1093\/nar\/15.22.9616","article-title":"Multi-allelic RFLP for M27\u03b2, an anonymous single copy genomic clone at Xp11.3-Xcen [HGM9 provisional no. DXS255]","volume":"15","author":"Fraser","year":"1987","journal-title":"Nucleic Acids Res"},{"key":"10.1006\/bcmd.1999.0247_RF20","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/(SICI)1098-1004(1998)11:1<1::AID-HUMU1>3.0.CO;2-O","article-title":"Recommendations for a nomenclature system for human gene mutations","volume":"11","author":"Antonarakis","year":"1998","journal-title":"Hum Mutat"},{"key":"10.1006\/bcmd.1999.0247_RF21","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1006\/geno.1995.9979","article-title":"The mouse homolog of the Wiskott-Aldrich Syndrome Protein (WASP) gene is highly conserved and maps near the scurfy (sf) mutation on the X chromosome","volume":"29","author":"Derry","year":"1995","journal-title":"Genomics"},{"key":"10.1006\/bcmd.1999.0247_RF22","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1203\/00006450-199704000-00013","article-title":"Mutation analysis of five Japanese families with Wiskott-Aldrich syndrome and determination of the family members carrier status using three different methods","volume":"41","author":"Ariga","year":"1997","journal-title":"Pediatr Res"},{"key":"10.1006\/bcmd.1999.0247_RF23","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1002\/(SICI)1098-1004(1997)10:4<310::AID-HUMU7>3.0.CO;2-K","article-title":"Characterisation of a deletion mutation involving exons 3\u20137 of the WASP gene detected in a patient with Wiskott-Aldrich syndrome","volume":"10","author":"Ariga","year":"1997","journal-title":"Hum Mutat"},{"key":"10.1006\/bcmd.1999.0247_RF24","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/S0022-3476(96)70189-0","article-title":"Wiskott-Aldrich syndrome in a family with Fanconi anemia","volume":"129","author":"Rohrer","year":"1996","journal-title":"J Pediatr"},{"key":"10.1006\/bcmd.1999.0247_RF25","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1016\/S0022-3476(96)70190-7","article-title":"Isolated X-linked thrombocytopenia in two unrelated families is associated with point mutations in the Wiskott-Aldrich syndrome protein gene","volume":"129","author":"de Saint Basile","year":"1996","journal-title":"J Pediatr"},{"key":"10.1006\/bcmd.1999.0247_RF26","doi-asserted-by":"crossref","first-page":"3648","DOI":"10.1182\/blood.V86.10.3648.bloodjournal86103648","article-title":"High prevalence of nonsense, frame shift and splice-site mutations in 16 patients with full-blown Wiskott-Aldrich syndrome","volume":"86","author":"Wengler","year":"1995","journal-title":"Blood"},{"key":"10.1006\/bcmd.1999.0247_RF27","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1146\/annurev.immunol.16.1.593","article-title":"The immunogenetics of human infectious disease","volume":"16","author":"Hill","year":"1998","journal-title":"Annu Rev Immunol"},{"key":"10.1006\/bcmd.1999.0247_RF28","doi-asserted-by":"crossref","first-page":"5326","DOI":"10.1002\/j.1460-2075.1996.tb00917.x","article-title":"N-WASP, a novel actin-depolymerizing protein, regulates the cortical cytoskeletal rearrangement in a PIP2-dependent manner downstream of tyrosine kinases","volume":"15","author":"Miki","year":"1996","journal-title":"EMBO J"},{"key":"10.1006\/bcmd.1999.0247_RF29","first-page":"906","article-title":"Germline mosaicism simulates genetic heterogeneity in Wiskott-Aldrich syndrome","volume":"46","author":"Arveiler","year":"1990","journal-title":"Am J Hum Genet"},{"key":"10.1006\/bcmd.1999.0247_RF30","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1007\/BF00217127","article-title":"Wiskott-Aldrich syndrome carrier detection with the hypervariable marker M27\u03b2","volume":"89","author":"de Saint Basile","year":"1992","journal-title":"Hum Genet"}],"container-title":["Blood Cells, Molecules, and Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1079979699902474?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1079979699902474?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T12:18:15Z","timestamp":1761049095000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1079979699902474"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1999,8]]},"references-count":30,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1999,8]]}},"alternative-id":["S1079979699902474"],"URL":"https:\/\/doi.org\/10.1006\/bcmd.1999.0247","relation":{},"ISSN":["1079-9796"],"issn-type":[{"value":"1079-9796","type":"print"}],"subject":[],"published":{"date-parts":[[1999,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Unique and Recurrent WAS Gene Mutations in Wiskott-Aldrich Syndrome and X-Linked Thrombocytopenia","name":"articletitle","label":"Article Title"},{"value":"Blood Cells, Molecules, and Diseases","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1006\/bcmd.1999.0247","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"converted-article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 1999 Academic Press. All rights reserved.","name":"copyright","label":"Copyright"}]}}