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Twenty-nine missense mutations linked with familial Alzheimer's disease alter the processing of presenilin 1

โœ Scribed by Ohoshi Murayama; Miyuki Murayama; Toshiyuki Honda; Xiaoyan Sun; Naomi Nihonmatsu; Akihiko Takashima

Book ID
117449527
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
639 KB
Volume
23
Category
Article
ISSN
0278-5846

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Missense mutations in the chromosome 14
Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene
โœ Parvoneh Poorkaj; Vikram Sharma; Leojean Anderson; Ellen Nemens; Ma Elias Alonso ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 156 KB ๐Ÿ‘ 2 views

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