Article
The clinical phenotype of two missense mutations in the presenilin I gene in Japanese patients.
Annals of neurology - 1 Dec 1996
Ikeda M, Sharma V, Sumi S M, Rogaeva E A, Poorkaj P, Sherrington R, Nee L, Tsuda T, Oda N, Watanabe M, Aoki M, Shoji M, Abe K, Itoyama Y, Hirai S, Schellenberg G D, Bird T D, St George-Hyslop P H
Abstract excerpt
We report the clinical and neuropathologic phenotypes associated with two different missense mutations in the presenilin 1 (PS-1) gene in Japanese patients with early-onset familial Alzheimer's disease (FAD). In the AM/JPN1 pedigree a missense mutation (C-->T) was found at nucleotide 1102, which...
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