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The presenilin genes: a new gene family involved in Alzheimer disease pathology

✍ Scribed by Cruts, Marc ;Hendriks, Lydia ;Van Broeckhoven, Christine


Book ID
121729521
Publisher
Oxford University Press
Year
1996
Tongue
English
Weight
163 KB
Volume
5
Category
Article
ISSN
0964-6906

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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