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Characteristics in Phenotypic Manifestations of Genetically Proved Marfan Syndrome in a Japanese Population

โœ Scribed by Koichi Akutsu; Hiroko Morisaki; Satoshi Takeshita; Hitoshi Ogino; Masahiro Higashi; Toshiya Okajima; Tsuyoshi Yoshimuta; Yoshiaki Tsutsumi; Hiroshi Nonogi; Takayuki Morisaki

Book ID
113445448
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
257 KB
Volume
103
Category
Article
ISSN
0002-9149

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Comprehensive genetic analysis of releva
Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes
โœ Haruya Sakai; Remco Visser; Shiro Ikegawa; Etsuro Ito; Hironao Numabe; Yoriko Wa ๐Ÿ“‚ Article ๐Ÿ“… 2006 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 170 KB

## Abstract In order to evaluate the contribution of __FBN1, FBN2, TGFBR1__, and __TGFBR2__ mutations to the Marfan syndrome (MFS) phenotype, the four genes were analyzed by direct sequencing in 49 patients with MFS or suspected MFS as a cohort study. A total of 27 __FBN1__ mutations (22 novel) in