Article
[Clinical characteristics of a family with early-onset Alzheimer's disease associated with a presenilin 1 mutation (M139T)].
Medicina clinica - 18 May 2002
Lleó Alberto, Blesa Rafael, Gendre Jordi, Castellví Magda, Molinuevo José Luis, Oliva Rafael
Abstract excerpt
BACKGROUND: The objective of this study was to describe the clinical features and the genetic analysis of a family with autosomal-dominant familial Alzheimer's disease. PATIENTS AND METHOD: In addition to the clinical findings of different family members, we performed a genetic analysis to detect mutations in the amyloid precursor protein genes, presenilin 1 and presenilin 2 genes, by means of single-strand...
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