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Familial presenile dementia with Parkinsonism in a Japanese family

โœ Scribed by Takao, Masaki; Hayakawa, Isao; Ikeda, Eiji; Murrell, Jill R.; Piccardo, Pedro; Ghetti, Bernardino; Koto, Atsuo


Book ID
122019720
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
186 KB
Volume
21
Category
Article
ISSN
0197-4580

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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