Article
SORL1 variants across Alzheimer's disease European American cohorts.
European journal of human genetics : EJHG - 1 Dec 2016
Fernández Maria Victoria, Black Kathleen, Carrell David, Saef Ben, Budde John, Deming Yuetiva, Howells Bill, Del-Aguila Jorge L, Ma Shengmei, Bi Catherine, Norton Joanne, Chasse Rachel, Morris John, Goate Alison, Cruchaga Carlos
Abstract excerpt
The accumulation of the toxic Aβ peptide in Alzheimer's disease (AD) largely relies upon an efficient recycling of amyloid precursor protein (APP). Recent genetic association studies have described rare variants in SORL1 with putative pathogenic consequences in the recycling of APP. In this work, we examine the presence of rare coding variants in SORL1 in three different European American cohorts: early-onset,...
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