Article
Somatic mutation analysis of the APP and Presenilin 1 and 2 genes in Alzheimer's disease brains.
Journal of neurogenetics - 1 Jan 1998
Reznik-Wolf H, Machado J, Haroutunian V, DeMarco L, Walter G F, Goldman B, Davidson M, Johnston J A, Lannfelt L, Dani S U, Friedman E
Abstract excerpt
The molecular basis for sporadic Alzheimer disease (AD) remains largely unknown. We hypothesized that in some cases of sporadic AD, a somatic mutation in an embryonic cell committed to neuronal development within the amyloid precursor protein (APP), the presenilin 1 (PS-1) or the presenilin 2 (PS-2) genes (genes known to be involved in familial AD) may result in AD phenotype. Using PCR, denaturing gradient gel...
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