Article
Discovery and validation of autosomal dominant Alzheimer's disease mutations.
Alzheimer's research & therapy - 18 Jul 2018
Hsu Simon, Gordon Brian A, Hornbeck Russ, Norton Joanne B, Levitch Denise, Louden Adia, Ziegemeier Ellen, Laforce Robert, Chhatwal Jasmeer, Day Gregory S, McDade Eric, Morris John C, Fagan Anne M, Benzinger Tammie L S, Goate Alison M, Cruchaga Carlos, Bateman Randall J, Karch Celeste M
Abstract excerpt
BACKGROUND: Alzheimer's disease (AD) is a neurodegenerative disease that is clinically characterized by progressive cognitive decline. Mutations in amyloid-β precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2) are the pathogenic cause of autosomal dominant AD (ADAD). However, polymorphisms also exist within these genes. METHODS: In order to distinguish polymorphisms from pathogenic mutations,...
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