{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:26:52Z","timestamp":1791296812388,"version":"4.1.0"},"reference-count":95,"publisher":"Hindawi Limited","issue":"3","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":4383,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum. Mutat."],"published-print":{"date-parts":[[2003,9]]},"DOI":"10.1002\/humu.10249","type":"journal-article","created":{"date-parts":[[2003,8,22]],"date-time":"2003-08-22T13:43:16Z","timestamp":1061559796000},"page":"199-208","source":"Crossref","is-referenced-by-count":297,"title":["Update of the UMD-<i>FBN1<\/i>mutation database and creation of an<i>FBN1<\/i>polymorphism database"],"prefix":"10.1155","volume":"22","author":[{"given":"Gwena\u00eblle","family":"Collod-B\u00e9roud","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saga","family":"Le Bourdelles","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lesley","family":"Ades","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leena","family":"Ala-Kokko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Booms","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maureen","family":"Boxer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Child","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Comeglio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"De Paepe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James C.","family":"Hyland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katerine","family":"Holman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilkka","family":"Kaitila","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bart","family":"Loeys","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabor","family":"Matyas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lieve","family":"Nuytinck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leena","family":"Peltonen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Terhi","family":"Rantamaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Robinson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beat","family":"Steinmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudine","family":"Junien","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christophe","family":"B\u00e9roud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Boileau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"98","reference":[{"key":"10.1002\/humu.10249-BIB1","first-page":"Abstract 2367","article-title":"Characterisation of an FBN1 gene mutation, G1013R, in a child with neonatal Marfan syndrome (nMFS) and mitochondrial complex I (CI) deficiency","volume":"61","author":"Ad\u00e8s","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.10249-BIB2","doi-asserted-by":"crossref","first-page":"2135","DOI":"10.1093\/hmg\/2.12.2135","article-title":"Missense mutations impair intracellular processing of fibrillin and microfibril assembly in Marfan Syndrome","volume":"2","author":"Aoyama","year":"1993","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.10249-BIB3","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1172\/JCI117298","article-title":"Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms","volume":"94","author":"Aoyama","year":"1994","journal-title":"J Clin Invest"},{"key":"10.1002\/humu.10249-BIB4","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1093\/nar\/24.1.121","article-title":"APC gene: database of germline and somatic mutations in human tumors and cell lines","volume":"24","author":"B\u00e9roud","year":"1996","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.10249-BIB5","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1093\/nar\/24.1.147","article-title":"p53 gene mutation: software and database","volume":"24","author":"B\u00e9roud","year":"1996","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.10249-BIB6","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1093\/nar\/25.1.138","article-title":"p53 and APC gene mutations: soft-ware and databases","volume":"25","author":"B\u00e9roud","year":"1997","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.10249-BIB7","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1093\/nar\/26.1.256","article-title":"Software and database for the analysis of mutations in the VHL gene","volume":"26","author":"B\u00e9roud","year":"1998","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.10249-BIB8","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1093\/nar\/26.1.200","article-title":"p53 gene mutation: software and data-base","volume":"26","author":"B\u00e9roud","year":"1998","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.10249-BIB9","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<86::AID-HUMU16>3.0.CO;2-4","article-title":"UMD (Universal mutation database) : a generic software to build and analyze locus specific databases","volume":"15","author":"B\u00e9roud","year":"2000","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.10249-BIB10","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1002\/humu.10187","article-title":"The UMD-p53 database: new mutations and analysis tools","volume":"21","author":"B\u00e9roud","year":"2003","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.10249-BIB11","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1006\/geno.1998.5697","article-title":"Revised genomic organization of FBN1 and significance for regulated gene expression","volume":"56","author":"Biery","year":"1999","journal-title":"Genomics"},{"key":"10.1002\/humu.10249-BIB12","doi-asserted-by":"crossref","first-page":"S198","DOI":"10.1002\/humu.1380110164","article-title":"Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial Marfan syndrome phenotype","author":"Black","year":"1998","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.10249-BIB13","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1007\/s004390050489","article-title":"A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype","volume":"100","author":"Booms","year":"1997","journal-title":"Hum Genet"},{"key":"10.1002\/humu.10249-BIB14","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1111\/j.1651-2227.1999.tb01277.x","article-title":"Clinical, pathological and molecular genetic findings in a case of neonatal Marfan syndrome","volume":"88","author":"Bresters","year":"1999","journal-title":"Acta Paediatr"},{"key":"10.1002\/humu.10249-BIB15","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1101\/gad.997502","article-title":"A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer","volume":"16","author":"Caputi","year":"2002","journal-title":"Genes Dev"},{"key":"10.1002\/humu.10249-BIB16","doi-asserted-by":"crossref","first-page":"855","DOI":"10.1006\/jmbi.1997.1593","article-title":"Metal ion dependency of microfibrils supports a rod-like conformation for fibrillin-1 calcium-binding epidermal growth factor-like domains","volume":"276","author":"Cardy","year":"1998","journal-title":"J Mol Biol"},{"key":"10.1002\/humu.10249-BIB17","first-page":"4454","article-title":"Database and software for the analysis of mutations in the human p53 gene","volume":"54","author":"Cariello","year":"1994","journal-title":"Cancer Res"},{"key":"10.1002\/humu.10249-BIB18","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1007\/s100380050027","article-title":"Fibrillin gene (FBN1) mutations in Japanese patients with Marfan syndrome","volume":"45","author":"Chikumi","year":"2000","journal-title":"J Hum Genet"},{"key":"10.1002\/humu.10249-BIB19","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1093\/nar\/24.1.137","article-title":"Software and database for the analysis of mutations in the human FBN1 gene","volume":"24","author":"Collod","year":"1996","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.10249-BIB20","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1093\/nar\/25.1.147","article-title":"Marfan database (second edition): software and database for the analysis of mutations in the human FBN1 gene","volume":"25","author":"Collod-B\u00e9roud","year":"1997","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.10249-BIB21","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1093\/nar\/26.1.229","article-title":"Marfan database (third edition): new mutations and new routines for the software","volume":"26","author":"Collod-B\u00e9roud","year":"1998","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.10249-BIB22","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1038\/sj.ejhg.5200876","article-title":"Marfan syndrome in the third millennium","volume":"10","author":"Collod-Beroud","year":"2002","journal-title":"Eur J Hum Genet"},{"key":"10.1002\/humu.10249-BIB23","doi-asserted-by":"crossref","unstructured":"Comeglio P, Evans A, Brice G, Child A. 2001. Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome. Mutation in Brief #462. Online. Hum Mutat.","DOI":"10.1002\/humu.1235"},{"key":"10.1002\/humu.10249-BIB24","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1086\/514856","article-title":"Gene regulation '97. The regulation of splice-site selection, and its role in human disease","volume":"61","author":"Cooper","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.10249-BIB25","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1006\/geno.1993.1350","article-title":"Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5\u2032 end","volume":"17","author":"Corson","year":"1993","journal-title":"Genomics"},{"key":"10.1002\/humu.10249-BIB26","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1007\/s004390100505","article-title":"Nomenclature for the description of human sequence variations","volume":"109","author":"den Dunnen","year":"2001","journal-title":"Hum Genet"},{"key":"10.1002\/humu.10249-BIB27","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1038\/352337a0","article-title":"Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene","volume":"352","author":"Dietz","year":"1991","journal-title":"Nature"},{"key":"10.1002\/humu.10249-BIB28","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1016\/0888-7543(91)90264-F","article-title":"The Marfan syndrome locus: confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3","volume":"9","author":"Dietz","year":"1991","journal-title":"Genomics"},{"key":"10.1002\/humu.10249-BIB29","doi-asserted-by":"crossref","first-page":"680","DOI":"10.1126\/science.8430317","article-title":"The skipping of constitutive exons in vivo induced by nonsense mutations","volume":"259","author":"Dietz","year":"1993","journal-title":"Science"},{"key":"10.1002\/humu.10249-BIB30","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1038\/ng1094-183","article-title":"Maintenance of an open reading frame as an additional level of scrutiny during splice site selection","volume":"8","author":"Dietz","year":"1994","journal-title":"Nat Genet"},{"key":"10.1002\/humu.10249-BIB31","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1002\/pro.5560010201","article-title":"Reconstructing history with amino acid sequences","volume":"1","author":"Doolittle","year":"1992","journal-title":"Protein Sci"},{"key":"10.1002\/humu.10249-BIB32","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1016\/S0092-8674(00)81259-3","article-title":"Solution structure of a pair of calcium-binding epidermal growth factor-like domains: implications for the Marfan syndrome and other genetic disorders","volume":"85","author":"Downing","year":"1996","journal-title":"Cell"},{"key":"10.1002\/humu.10249-BIB33","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1136\/jmg.40.1.34","article-title":"In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome","volume":"40","author":"Faivre","year":"2003","journal-title":"J Med Genet"},{"key":"10.1002\/humu.10249-BIB34","doi-asserted-by":"crossref","first-page":"1893","DOI":"10.1093\/hmg\/8.10.1893","article-title":"Nonsense-mediated mRNA decay in health and disease","volume":"8","author":"Frischmeyer","year":"1999","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.10249-BIB35","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1002\/(SICI)1098-1004(1999)13:6<464::AID-HUMU6>3.0.CO;2-A","article-title":"Mutations of the VHL gene is sporadic renal cell carcinoma definition of a risk factor for VHL patients to develop an RCC","volume":"13","author":"Gallou","year":"1999","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.10249-BIB36","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1046\/j.1365-2230.2001.00924.x","article-title":"Characterization of mutations leading to recessive dystrophic epidermolysis bullosa and Marfan syndrome in a single patient","volume":"26","author":"Gardella","year":"2001","journal-title":"Clin Exp Dermatol"},{"key":"10.1002\/humu.10249-BIB37","first-page":"Abstract 1167","article-title":"Mutations in the carboxy terminus of FBN1 suggest a potential genotype-phenotype correlation in the Marfan syndrome","volume":"53","author":"Grossfield","year":"1993","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.10249-BIB38","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1002\/1096-8628(20010615)101:2<130::AID-AJMG1333>3.0.CO;2-V","article-title":"FBN1 exon 2 splicing error in a patient with Marfan syndrome","volume":"101","author":"Guo","year":"2001","journal-title":"Am J Med Genet"},{"key":"10.1002\/humu.10249-BIB39","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1007\/s004399900190","article-title":"Molecular analysis of eight mutations in FBN1","volume":"105","author":"Halliday","year":"1999","journal-title":"Hum Genet"},{"key":"10.1002\/humu.10249-BIB40","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1136\/jmg.39.8.589","article-title":"Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice","volume":"39","author":"Halliday","year":"2002","journal-title":"J Med Genet"},{"key":"10.1002\/humu.10249-BIB41","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1006\/mcpr.1994.1045","article-title":"A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly","volume":"8","author":"Hayward","year":"1994","journal-title":"Mol Cell Probes"},{"key":"10.1002\/humu.10249-BIB42","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1093\/hmg\/3.2.373","article-title":"Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome patients","volume":"3","author":"Hayward","year":"1994","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.10249-BIB43","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1002\/(SICI)1098-1004(1997)10:4<280::AID-HUMU3>3.0.CO;2-L","article-title":"Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: report of 12 novel mutations","volume":"10","author":"Hayward","year":"1997","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.10249-BIB44","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1136\/jmg.31.4.338","article-title":"A new missense mutation of fibrillin in a patient with Marfan Syndrome","volume":"31","author":"Hewett","year":"1994","journal-title":"J Med Genet"},{"key":"10.1002\/humu.10249-BIB45","doi-asserted-by":"crossref","first-page":"1081","DOI":"10.1001\/archpedi.156.11.1081","article-title":"A recurring FBN1 gene mutation in neonatal Marfan syndrome","volume":"156","author":"Jacobs","year":"2002","journal-title":"Arch Pediatr Adolesc Med"},{"key":"10.1002\/humu.10249-BIB46","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1093\/nar\/26.1.271","article-title":"Software and database for the analysis of mutations in the human WT gene","volume":"26","author":"Jeanpierre","year":"1998","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.10249-BIB47","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1016\/S0092-8674(00)00059-3","article-title":"The ER translocon and retrotranslocation: is the shift into reverse manual or automatic","volume":"102","author":"Johnson","year":"2000","journal-title":"Cell"},{"key":"10.1002\/humu.10249-BIB48","doi-asserted-by":"crossref","first-page":"5917","DOI":"10.1073\/pnas.89.13.5917","article-title":"Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides","volume":"89","author":"Kainulainen","year":"1992","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.10249-BIB49","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1038\/ng0194-64","article-title":"Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan Syndrome","volume":"6","author":"Kainulainen","year":"1994","journal-title":"Nat Genet"},{"key":"10.1002\/humu.10249-BIB50","doi-asserted-by":"crossref","first-page":"S34","DOI":"10.1002\/humu.1380110112","article-title":"Two novel fibrillin-1 mutations resulting in premature termination codons but in different mutant transcript levels and clinical phenotypes","volume":"1","author":"Karttunen","year":"1998","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.10249-BIB51","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1002\/humu.10112","article-title":"TGGE screening of the entire FBN1 coding sequence in 126 individuals with Marfan syndrome and related fibrillinopathies","volume":"20","author":"Katzke","year":"2002","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.10249-BIB52","doi-asserted-by":"crossref","first-page":"1317","DOI":"10.1242\/jcs.108.3.1317","article-title":"Cysteine-to-arginine point mutation in a \u2018hybrid\u2019 eight-cysteine domain of FBN1: consequences for fibrillin aggregation and microfibril assembly","volume":"108","author":"Kielty","year":"1995","journal-title":"J Cell Sci"},{"key":"10.1002\/humu.10249-BIB53","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1006\/jmbi.1996.0003","article-title":"Calcium binding properties of an epidermal growth factor-like domain pair from human fibrillin-1","volume":"255","author":"Knott","year":"1996","journal-title":"J Mol Biol"},{"key":"10.1002\/humu.10249-BIB54","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1136\/jmg.39.1.34","article-title":"Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions","volume":"39","author":"Korkko","year":"2002","journal-title":"J Med Genet"},{"key":"10.1002\/humu.10249-BIB55","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1007\/BF00194629","article-title":"Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment","volume":"86","author":"Krawczak","year":"1991","journal-title":"Hum Genet"},{"key":"10.1002\/humu.10249-BIB56","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1093\/nar\/26.1.269","article-title":"APC gene: database of germline and somatic mutations in human tumors and cell lines","volume":"26","author":"Laurent-Puig","year":"1998","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.10249-BIB57","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1038\/352330a0","article-title":"Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes","volume":"352","author":"Lee","year":"1991","journal-title":"Nature"},{"key":"10.1002\/humu.10249-BIB58","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1146\/annurev.cellbio.16.1.557","article-title":"Secretory protein trafficking and organelle dynamics in living cells","volume":"16","author":"Lippincott-Schwartz","year":"2000","journal-title":"Annu Rev Cell Dev Biol"},{"key":"10.1002\/humu.10249-BIB59","doi-asserted-by":"crossref","first-page":"1581","DOI":"10.1093\/hmg\/5.10.1581","article-title":"Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe Marfan syndrome","volume":"5","author":"Liu","year":"1996","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.10249-BIB60","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1038\/ng0897-328","article-title":"Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome [letter]","volume":"16","author":"Liu","year":"1997","journal-title":"Nat Genet"},{"key":"10.1002\/humu.10249-BIB61","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1089\/gte.1997.1.237","article-title":"Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders","volume":"1","author":"Liu","journal-title":"Genet Test"},{"key":"10.1002\/humu.10249-BIB62","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1186\/1471-2350-2-11","article-title":"Multi-exon deletions of the FBN1 gene in Marfan syndrome","volume":"2","author":"Liu","year":"2001","journal-title":"BMC Med Genet"},{"key":"10.1002\/humu.10249-BIB63","first-page":"473","article-title":"Missense mutations of the fibrillin-1 gene in two Chinese patients with severe Marfan syndrome","volume":"114","author":"Lo","year":"2001","journal-title":"Chin Med J (Engl)"},{"key":"10.1002\/humu.10249-BIB64","doi-asserted-by":"crossref","first-page":"2447","DOI":"10.1001\/archinte.161.20.2447","article-title":"Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome","volume":"161","author":"Loeys","year":"2001","journal-title":"Arch Intern Med"},{"key":"10.1002\/humu.10249-BIB65","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1006\/geno.1996.0492","article-title":"A point mutation creating an extra N-glycosylation site in fibrillin-1 results in neonatal Marfan syndrome","volume":"36","author":"Lonnqvist","year":"1996","journal-title":"Genomics"},{"key":"10.1002\/humu.10249-BIB66","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1006\/scdb.2000.0160","article-title":"Endoplasmic reticulum-associated protein degradation","volume":"11","author":"Lord","year":"2000","journal-title":"Cell Dev Biol"},{"key":"10.1002\/humu.10249-BIB67","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1038\/352334a0","article-title":"Partial sequence of a candidate gene for the Marfan syndrome","volume":"352","author":"Maslen","year":"1991","journal-title":"Nature"},{"key":"10.1002\/humu.10249-BIB68","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1002\/1098-1004(2001)17:1<71::AID-HUMU9>3.0.CO;2-0","article-title":"Eight novel mutations of the FBN1 gene found in Japanese patients with Marfan syndrome","volume":"17","author":"Matsukawa","year":"2001","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.10249-BIB69","doi-asserted-by":"crossref","first-page":"2373","DOI":"10.1172\/JCI117930","article-title":"A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome","volume":"95","author":"Milewicz","year":"1995","journal-title":"J Clin Invest"},{"key":"10.1002\/humu.10249-BIB70","doi-asserted-by":"crossref","first-page":"1703","DOI":"10.1086\/302144","article-title":"Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome","volume":"63","author":"Montgomery","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.10249-BIB71","first-page":"8","article-title":"Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons","volume":"57","author":"Nijbroek","year":"1995","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.10249-BIB72","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1002\/(SICI)1096-8628(20000320)91:3<212::AID-AJMG12>3.0.CO;2-3","article-title":"Clustering of mutations associated with mild Marfan-like phenotypes in the 3\u2032 region of FBN1 suggests a potential genotype-phenotype correlation","volume":"91","author":"Palz","year":"2000","journal-title":"Am J Med Genet"},{"key":"10.1002\/humu.10249-BIB73","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1034\/j.1399-0004.2001.590610.x","article-title":"Fibrillin-1 (FBN1) gene frameshift mutations in Marfan patients: genotype-phenotype correlation","volume":"59","author":"Pepe","year":"2001","journal-title":"Clin Genet"},{"key":"10.1002\/humu.10249-BIB74","doi-asserted-by":"crossref","first-page":"961","DOI":"10.1093\/hmg\/2.7.961","article-title":"Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan Syndrome","volume":"2","author":"Pereira","year":"1993","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.10249-BIB75","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1002\/(SICI)1096-8628(19960329)62:3<233::AID-AJMG7>3.0.CO;2-U","article-title":"Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene","volume":"62","author":"Putnam","year":"1996","journal-title":"Am J Med Genet"},{"key":"10.1002\/humu.10249-BIB76","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1002\/0471221929.ch12","volume-title":"onnective tissue and its heritable disorders: Molecular, genetic and medical aspects","author":"Pyeritz","year":"2002"},{"key":"10.1002\/humu.10249-BIB77","first-page":"Abstract 1936","article-title":"The identification of fibrillin mutations in Marfan syndrome using heteroduplex analysis and nucleotide sequencing","volume":"57","author":"Quan","year":"1995","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.10249-BIB78","doi-asserted-by":"crossref","first-page":"662","DOI":"10.1006\/dbio.1995.1177","article-title":"An extracellular matrix protein of jellyfish homologous to mammalian fibrillins forms different fibrils depending on the life stage of the animal","volume":"169","author":"Reber-M\u00fcller","year":"1995","journal-title":"Dev Biol"},{"key":"10.1002\/humu.10249-BIB79","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1002\/humu.10113","article-title":"Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies","volume":"20","author":"Robinson","year":"2002","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.10249-BIB80","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1002\/humu.9075","article-title":"Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations","volume":"20","author":"Rommel","year":"2002","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.10249-BIB81","doi-asserted-by":"crossref","first-page":"1007","DOI":"10.1086\/302582","article-title":"Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes","volume":"65","author":"Schrijver","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.10249-BIB82","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1086\/341581","article-title":"Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes","volume":"71","author":"Schrijver","year":"2002","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.10249-BIB83","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1038\/ng0296-209","article-title":"Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome","volume":"12","author":"Sood","year":"1996","journal-title":"Nat Genet"},{"key":"10.1002\/humu.10249-BIB84","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1002\/humu.10189","article-title":"Significance of TP53 mutations in human cancer: a critical analysis of mutations at CpG dinucleotides","volume":"21","author":"Soussi","year":"2003","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.10249-BIB85","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1172\/JCI117389","article-title":"An extra cysteine in one of the non-calcium-binding epidermal growth factor-like motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome","volume":"94","author":"Stahl-Hallengren","year":"1994","journal-title":"J Clin Invest"},{"key":"10.1002\/humu.10249-BIB86","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1038\/sj.ejhg.5200582","article-title":"Classic, early-onset severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40","volume":"9","author":"Tiecke","year":"2001","journal-title":"Eur J Hum Genet"},{"key":"10.1002\/humu.10249-BIB87","doi-asserted-by":"crossref","first-page":"1813","DOI":"10.1093\/hmg\/2.11.1813","article-title":"Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains","volume":"2","author":"Tynan","year":"1993","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.10249-BIB88","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1093\/nar\/25.1.172","article-title":"Software and database for the analysis of mutations in the human LDL receptor gene","volume":"25","author":"Varret","year":"1997","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.10249-BIB89","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1093\/nar\/26.1.248","article-title":"LDLR database. 2nd ed. New additions to the database and the soft-ware, and results of the first molecular analysis","volume":"26","author":"Varret","year":"1998","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.10249-BIB90","doi-asserted-by":"crossref","DOI":"10.1002\/humu.10102","article-title":"The UMD-LDLR database: additions to the software and 490 new entries to the database","volume":"20","author":"Villeger","year":"2002","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.10249-BIB91","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1093\/hmg\/4.4.607","article-title":"Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome","volume":"4","author":"Wang","year":"1995","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.10249-BIB92","doi-asserted-by":"crossref","first-page":"760","DOI":"10.1136\/jmg.33.9.760","article-title":"Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome","volume":"33","author":"Wang","year":"1996","journal-title":"J Med Genet"},{"key":"10.1002\/humu.10249-BIB93","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1002\/humu.10092","article-title":"Germline mutation profile of the MEN1 gene in Multiple Endocrine Neoplasia type 1 and correlations between phenotype and the functionnal domains of MEN1 protein","volume":"20","author":"Wautot","year":"2002","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.10249-BIB94","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1002\/1098-1004(200007)16:1<92::AID-HUMU24>3.0.CO;2-1","article-title":"Enzymatic mutation detection (EMD) of novel mutations (R565X and R1523X) in the FBN1 gene of patients with Marfan syndrome using T4 endonuclease VII","volume":"16","author":"Youil","year":"2000","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.10249-BIB95","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1002\/(SICI)1098-1004(199911)14:5<440::AID-HUMU11>3.0.CO;2-P","article-title":"Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene, FBN1","volume":"14","author":"Yuan","year":"1999","journal-title":"Hum Mutat"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.10249","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.10249","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:50:41Z","timestamp":1672332641000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.10249"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,9]]},"references-count":95,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2003,9]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.10249","relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,9]]}}}