We report 9 new mutations in German patients presenting with classical Marfan syndrome. All mutations occur in exons with calcium-binding (cb) epidermal growth factor-like (EGF) domains. Five mutations are missense involving exons 12, 27, 30, 44, and 52 with the resultant substitution of cysteine by
Eight novel mutations of the FBN1 gene found in Japanese patients with Marfan syndrome
β Scribed by Ritsu Matsukawa; Kazuki Iida; Masako Nakayama; Tsunehiro Mukai; Yutaka Okita; Motomi Ando; Shinichi Takamoto; Nobuyuki Nakajima; Hiroko Morisaki; Takayuki Morisaki
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 23 KB
- Volume
- 17
- Category
- Article
- ISSN
- 1059-7794
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