Article
Genetic variability in the regulatory region of presenilin 1 associated with risk for Alzheimer's disease and variable expression.
Human molecular genetics - 12 Feb 2000
Theuns J, Del-Favero J, Dermaut B, van Duijn C M, Backhovens H, Van den Broeck M V, Serneels S, Corsmit E, Van Broeckhoven C V, Cruts M
Abstract excerpt
Mutations in the presenilin 1 ( PSEN1 ) gene have been implicated in 18-50% of autosomal dominant cases with early-onset Alzheimer's disease (EOAD). Also, PSEN1 has been suggested as a potential risk gene in late-onset AD cases. We recently showed genetic association in a population-based study of EOAD, pointing to the 5' regulatory region of PSEN1. In this study we systematically screened 3.5 kb of the PSEN1...
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