The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele-Reference-Cited by-同舟云学术

The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele

Published:2015-02-04 Issue:10 Volume:24 Page:2764-2770
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Aubart Mélodie,Gross Marie-Sylvie,Hanna Nadine,Zabot Marie-Thérèse,Sznajder Marc,Detaint Delphine,Gouya Laurent,Jondeau Guillaume,Boileau Catherine,Stheneur Chantal

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/24/10/2764/14143176/ddv037.pdf

Reference24 articles.

1. Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes;Schrijver;Am. J. Hum. Genet.,2002

2. Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome;Loeys;Hum. Mutat.,2004

3. Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype–phenotype correlations in 76 patients with Marfan syndrome;Rommel;Hum. Mutat.,2005

4. Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation;Faivre;Eur. J. Hum. Genet.,2008

5. Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study;Faivre;Am. J. Hum. Genet.,2007

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