Article
A novel presenilin 1 mutation (Leu166Arg) associated with early-onset Alzheimer disease.
Archives of neurology - 1 Apr 2000
Ezquerra M, Carnero C, Blesa R, Oliva R
Abstract excerpt
BACKGROUND: Pathogenic mutations in the presenilin 1 (PS1) gene leading to early-onset Alzheimer disease have been described in various populations. The different mutations are not distributed randomly in the PS1 protein but are clustered in some PS1 exons. OBJECTIVE: To screen the PS1 gene in search of a potential mutation in a Spanish family with early-onset Alzheimer disease. METHODS: Single-stranded...
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