Update of the UMD-FBN1mutation database and creation of anFBN1polymorphism database-Reference-Cited by-同舟云学术

Update of the UMD-FBN1mutation database and creation of anFBN1polymorphism database

Published:2003-09 Issue:3 Volume:22 Page:199-208
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Collod-Béroud Gwenaëlle,Le Bourdelles Saga,Ades Lesley,Ala-Kokko Leena,Booms Patrick,Boxer Maureen,Child Anne,Comeglio Paolo,De Paepe Anne,Hyland James C.,Holman Katerine,Kaitila Ilkka,Loeys Bart,Matyas Gabor,Nuytinck Lieve,Peltonen Leena,Rantamaki Terhi,Robinson Peter,Steinmann Beat,Junien Claudine,Béroud Christophe,Boileau Catherine

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference95 articles.

1. Characterisation of an FBN1 gene mutation, G1013R, in a child with neonatal Marfan syndrome (nMFS) and mitochondrial complex I (CI) deficiency;Adès;Am J Hum Genet,1997

2. Missense mutations impair intracellular processing of fibrillin and microfibril assembly in Marfan Syndrome;Aoyama;Hum Mol Genet,1993

3. Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms;Aoyama;J Clin Invest,1994

4. APC gene: database of germline and somatic mutations in human tumors and cell lines;Béroud;Nucleic Acids Res,1996

5. p53 gene mutation: software and database;Béroud;Nucleic Acids Res,1996

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