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Exploratory data from complete genomes of familial alzheimer disease age-at-onset outliers

Lalli, Matthew A; Garcia, Gloria; Madrigal, Lucia; Arcos-Burgos, Mauricio (Oscar); Arcila, Mary Luz; Kosik, Kenneth S; Lopera, Francisco


Identifying genes that modify the age at onset (AAO) of Alzheimer disease and targeting them pharmacologically represent a potential treatment strategy. In this exploratory study, we sequenced the complete genomes of six individuals with familial Alzheimer disease due to the autosomal dominant mutation p.Glu280Ala in PSEN1 (MIM# 104311; NM_000021.3:c.839A>C). The disease and its AAO are highly heritable, motivating our search for genetic variants that modulate AAO. The median AAO of dementia in...[Show more]

CollectionsANU Research Publications
Date published: 2012
Type: Journal article
Source: Human Mutation
DOI: 10.1002/humu.22167


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