Mutation analysis of presenilin 1 gene in Alzheimer's disease
β Scribed by BOTEVA, K
- Book ID
- 122915215
- Publisher
- The Lancet
- Year
- 1996
- Tongue
- English
- Weight
- 466 KB
- Volume
- 347
- Category
- Article
- ISSN
- 0140-6736
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π SIMILAR VOLUMES
The presenilins (PS-1 and PS-2) are 2 members of a novel family of genes encoding integral membrane proteins recently implicated in Alzheimer's disease (AD) pathology. To date, 43 mutations have been identified in PS-1 and 2 in PS-2 that lead to familial presenile AD (onset before age 65 years). The
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