Article
Presenilin mutations in Alzheimer's disease.
Human mutation - 1 Jan 1998
Cruts M, Van Broeckhoven C
Abstract excerpt
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 normal and pathological functions of the PS proteins (ps-1 and ps-2) are unknown, but their high degree of homology...
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