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Loss-of-function presenilin mutations in Alzheimer disease. Talking Point on the role of presenilin mutations in Alzheimer disease

✍ Scribed by De Strooper, Bart


Book ID
110033243
Publisher
Nature Publishing Group
Year
2007
Tongue
English
Weight
240 KB
Volume
8
Category
Article
ISSN
1469-221X

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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