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A novel mutation (L250V) in the presenilin 1 gene in a Japanese familial Alzheimer's disease with myoclonus and generalized convulsion

✍ Scribed by Hirokazu Furuya; Minoru Yasuda; Ken-jiro Terasawa; Kazuhiro Tanaka; Hiroyuki Murai; Jun-ichi Kira; Yasumasa Ohyagi


Book ID
119465855
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
139 KB
Volume
209
Category
Article
ISSN
0022-510X

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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