Article
A novel presenilin-2 splice variant in human Alzheimer's disease brain tissue.
Journal of neurochemistry - 1 Jun 1999
Sato N, Hori O, Yamaguchi A, Lambert J C, Chartier-Harlin M C, Robinson P A, Delacourte A, Schmidt A M, Furuyama T, Imaizumi K, Tohyama M, Takagi T
Abstract excerpt
Mutations in the presenilin-1 (PS-1) and presenilin-2 (PS-2) genes account for the majority of cases of early-onset familial Alzheimer's disease (AD). Alternative splicing forms of the PS-1 and PS-2 gene products have previously been reported in fibroblast and brain tissue from both familial and sporadic AD patients, as well as from normal tissues and cell lines. We demonstrate here unusual alternative splicing...
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