Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes-Reference-Cited by-同舟云学术

Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes

Published:2006 Issue:16 Volume:140A Page:1719-1725
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Sakai Haruya,Visser Remco,Ikegawa Shiro,Ito Etsuro,Numabe Hironao,Watanabe Yoriko,Mikami Haruo,Kondoh Tatsuro,Kitoh Hiroshi,Sugiyama Ryusuke,Okamoto Nobuhiko,Ogata Tsutomu,Fodde Riccardo,Mizuno Seiji,Takamura Kyoko,Egashira Masayuki,Sasaki Nozomu,Watanabe Sachiro,Nishimaki Shigeru,Takada Fumio,Nagai Toshiro,Okada Yasushi,Aoka Yoshikazu,Yasuda Kazushi,Iwasa Mitsuji,Kogaki Shigetoyo,Harada Naoki,Mizuguchi Takeshi,Matsumoto Naomichi

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference23 articles.

1. Marfan Database (third edition): new mutations and new routines for the software

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

3. Revised diagnostic criteria for the Marfan syndrome

4. Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders

5. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

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