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Is the presenilin-1 E318G missense mutation a risk factor for Alzheimer's disease?

✍ Scribed by Seppo Helisalmi; Mikko Hiltunen; Arto Mannermaa; Anne Maria Koivisto; Maarit Lehtovirta; Irina Alafuzoff; Markku Ryynänen; Hilkka Soininen


Book ID
117478259
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
81 KB
Volume
278
Category
Article
ISSN
0304-3940

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A novel missense mutation (G209R) in exo
✍ Naoya Sugiyama; Kyoko Suzuki; Takehiko Matsumura; Chiaki Kawanishi; Hideki Onish 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 17 KB 👁 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