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Missense mutation E318G of the presenilin-1 gene appears to be a nonpathogenic polymorphism

✍ Scribed by Jesús Aldudo; María J. Bullido; Anna Frank; Fernando Valdivieso


Book ID
101471290
Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
204 KB
Volume
44
Category
Article
ISSN
0364-5134

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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