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Novel COL7A1 mutations in a Japanese family with transient bullous dermolysis of the newborn associated with pseudosyndactyly

✍ Scribed by H. Nakano; Y. Toyomaki; S. Ohashi; A. Nakano; H. Jin; T. Munakata; N. Akita; K. Tamai; Y. Mitsuhashi


Book ID
108669504
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
752 KB
Volume
157
Category
Article
ISSN
0007-0963

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A novel missense mutation (G209R) in exo
✍ Naoya Sugiyama; Kyoko Suzuki; Takehiko Matsumura; Chiaki Kawanishi; Hideki Onish πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 17 KB πŸ‘ 2 views

Over fifty missense mutations in the presenilin-1 (PSEN1) gene have been reported in families with presenile familial Alzheimer's disease (FAD). We describe a novel missense mutation (G209R) within the predicted fourth transmembrane domain of the PSEN1 in a Japanese family with presenile FAD. The af