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A Mutation in DAOA Modifies the Age of Onset in PSEN1 E280A Alzheimer's Disease

Velez, Jorge; Rivera, Dora; Mastronardi, Claudio; Patel, Hardip; Tobon, C; Villegas, A; Cai, Yeping; Easteal, Simon; Lopera, Francisco; Arcos-Burgos, Mauricio (Oscar)


We previously reported age of onset (AOO) modifier genes in the world’s largest pedigree segregating early-onset Alzheimer’s disease (AD), caused by the p.Glu280Ala (E280A) mutation in the PSEN1 gene. Here we report the results of a targeted analysis of functional exonic variants in those AOO modifier genes in sixty individuals with PSEN1 E280A AD who were whole-exome genotyped for ~250,000 variants. Standard quality control, filtering, and annotation for functional variants were applied, and...[Show more]

CollectionsANU Research Publications
Date published: 2016
Type: Journal article
Source: Neural Plasticity
DOI: 10.1155/2016/9760314
Access Rights: Open Access


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