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Familial Alzheimer's Disease Mutations in Presenilin-1 and Store-Operated Calcium Entry

โœ Scribed by Ryazantseva, Maria; Glushankova, Lyubov; Pozdnyakov, Ilya; Bezprozvanny, Ilya; Kaznacheyeva, Elena


Book ID
122185886
Publisher
Biophysical Society
Year
2011
Tongue
English
Weight
41 KB
Volume
100
Category
Article
ISSN
0006-3495

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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