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Missense mutation of S182 gene in Japanese familial Alzheimer's disease

โœ Scribed by Hiroshi Tanahashi; Yoshihiro Mitsunaga; Keikichi Takahashi; Hirokazu Tasaki; Shunzo Watanabe; Takeshi Tabira


Book ID
118559830
Publisher
The Lancet
Year
1995
Tongue
English
Weight
136 KB
Volume
346
Category
Article
ISSN
0140-6736

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Mutations in the presenilin genes (PS-1 and PS-2) cause early onset autosomal dominant Alzheimer's disease (AD). Eight early-onset, autopsy-documented familial AD kindreds were screened for mutations in PS-1, and seven different mutations were identified. Three of these were new mutations (G209V, A4