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P3-197: The first autopsy case report of familial Alzheimer's disease associated with a mutation at G266S in the presenilin 1 gene

โœ Scribed by Akatsu, Hiroyasu; Yamagata, Hidehisa; Wake, Akito; Watanabe, Ichiro; Kimura, Naoto; Kamada, Kazuo; Miyazaki, Tatsuhiko; Tanabe, Hirotaka; Miki, Tetsuro; Yamamoto, Takayuki; Hori, Akira; Mimuro, Maya; Yoshida, Mari; Hashizume, Yoshio


Book ID
122650832
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
56 KB
Volume
4
Category
Article
ISSN
1552-5260

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A novel missense mutation (G209R) in exo
โœ Naoya Sugiyama; Kyoko Suzuki; Takehiko Matsumura; Chiaki Kawanishi; Hideki Onish ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 17 KB ๐Ÿ‘ 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