Art

J-GLOBAL ID：200902281379337423   Reference number：09A0057780

An FBN1 pseudoexon mutation in a patient with Marfan syndrome: confirmation of cryptic mutations leading to disease

Marfan症候群患者におけるFBN1シュウドエクソン変異:疾患を生じる潜在的変異の確認

Author (7)： GUO Dong-chuan (Univ. Texas Medical School at Houston, TX, USA) ,  GUPTA Prateek (Univ. Texas Medical School at Houston, TX, USA) ,  TRAN-FADULU Van (Univ. Texas Medical School at Houston, TX, USA) ,  GUIDRY Tera V. (Univ. Texas Medical School at Houston, TX, USA) ,  LEDUC Magalie S. (Univ. Texas Medical School at Houston, TX, USA) ,  SCHAEFER Frederick V. (Center for Genetic Testing at Saint Francis, OK, USA) ,  MILEWICZ Dianna M. (Univ. Texas Medical School at Houston, TX, USA)
Material： Journal of Human Genetics  (J Hum Genet)
Volume： 53  Issue： 11/12  Page： 1007-1011  Publication year： 2008 
JST Material Number： Z0756A  ISSN： 1434-5161  Document type： Article
Article type： 短報  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Thesaurus term： human(primates) ,...
Semi thesaurus term： FBN1 gene ,...

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JST classification (2)： Musculoskeletal diseases  (GG03000T) ,  Genetic variation  (EC01030Y)

Reference (24)：

• BOILEAU, C. Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes. Am J Hum Genet. 1993, 53, 46-54
• COUTINHO, G. Functional significance of a deep intronic mutation in the ATM gene and evidence for an alternative exon 28a. Hum Mutat. 2005, 25, 118-124
• DAVID, A. An intronic growth hormone receptor mutation causing activation of a pseudoexon is associated with a broad spectrum of growth hormone insensitivity phenotypes. J Clin Endocrinol Metab. 2007, 92, 655-659
• DE PAEPE, A. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet. 1996, 62, 417-426
• DIETZ, HC. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature. 1991, 352, 337-339

Terms in the title (4)： Marfan症候群 ,  患者 ,  変異 ,  疾患