Identification of novelFBN1andTGFBR2mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes-Reference-Cited by-同舟云学术

Identification of novelFBN1andTGFBR2mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes

Published:2009-07 Issue:7 Volume:149A Page:1452-1459
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Chung Brian Hon-Yin,Lam Stephen Tak-Sum,Tong Tony Ming-For,Li Susanna Yuk-Han,Lun Kin-Shing,Chan Daniel Hon-Chuen,Fok Susanna Fung-Shan,Or June Siu-Fong,Smith David Keith,Yang Wanling,Lau Yu-Lung

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.32918/fullpdf

Reference35 articles.

1. Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies;Arbustini;Hum Mutat,2005

2. The Protein Data Bank;Berman;Nucl Acids Res,2000

3. Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy;Biggin;Hum Mutat,2004

4. Angiotensin II blockade and aortic-root dilatation in Marfan's syndrome;Brooke;N Eng J Med,2008

5. Functional Assessment of Amino Acid Variation Caused by Single-Nucleotide Polymorphisms

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