Article
Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes.
American journal of medical genetics. Part A - 1 Jul 2009
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
Abstract excerpt
Marfan syndrome is an autosomal dominant connective tissue disorder, and mutations in the FBN1 and TGFBR2 genes have been identified in probands with MFS and related phenotypes. Using DHPLC and sequencing, we studied the mutation spectrum in 65 probands with Marfan syndrome and related phenotypes. A total of 24 mutations in FBN1 were identified, of which 19 (nine missense, six frameshift, two nonsense and two...
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