Article
A novel missense mutation in the presenilin-1 gene in a familial Alzheimer's disease pedigree with abundant amyloid angiopathy.
Neuroscience letters - 22 Aug 1997
Yasuda M, Maeda K, Ikejiri Y, Kawamata T, Kuroda S, Tanaka C
Abstract excerpt
A number of missense mutations associated with early-onset familial Alzheimer's disease have been reported in the presenilin-1 gene. The mutations were demonstrated to cluster in specific regions of the the protein. We report here a novel missense mutation at the C-terminus of the third transmembrane domain in the presenilin-1 protein in a family of Japanese origin with early-onset Alzheimer's disease. This...
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