Uncommon polymorphism in the presenilin genes in human familial Alzheimer's disease: not to be mistaken with a pathogenic mutation.

Abstract excerpt

In this article, we studied the frequency of mutations in the presenilin (PSEN) 1, PSEN2 and amyloid precursor protein genes in a group of patients with late-onset Alzheimer's disease (AD). No pathogenic mutations were found, but a rare non-conservative single-nucleotide polymorphism was detected in the PSEN2 gene (P334R) in a large kindred with familial late-onset AD. No cosegregation was observed in this...

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