Article
Novel presenilin 1 variant (P117A) causing Alzheimer's disease in the fourth decade of life.
Neuroscience letters - 20 Jun 2008
Kauwe John S K, Wang Jun, Chakraverty Sumi, Goate Alison M, Henao-Martinez Andres F
Abstract excerpt
Over 160 rare genetic variants in presenilin 1 (PSEN1) are known to cause Alzheimer's disease (AD). In this study we screened a family with early-onset AD for mutations in PSEN1 using direct DNA sequencing. We identified a novel PSEN1 genetic variant which results in the substitution of a Proline with an Alanine at codon 117 (P117A). The P117A variant was present in all demented individuals and fifty percent of...
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