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Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1

โœ Scribed by Michael S. Hildebrand; Jessica L. Sorensen; Maren Jensen; William J. Kimberling; Richard J.H. Smith


Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
199 KB
Volume
146A
Category
Article
ISSN
1552-4825

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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