Exploratory data from complete genomes of familial alzheimer disease age-at-onset outliers
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Lalli, Matthew A.; Garcia, Gloria; Madrigal, Lucia; Arcos-Burgos, Mauricio; Arcila, Mary Luz; Kosik, Kenneth S.; Lopera, Francisco
Description
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]
Collections | ANU Research Publications |
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Date published: | 2012 |
Type: | Journal article |
URI: | http://hdl.handle.net/1885/19948 |
Source: | Human Mutation |
DOI: | 10.1002/humu.22167 |
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