Article
Role of ABCA7 loss-of-function variant in Alzheimer's disease: a replication study in European-Americans.
Alzheimer's research & therapy - 10 Dec 2015
Del-Aguila Jorge L, Fernández Maria Victoria, Jimenez Jessica, Black Kathleen, Ma Shengmei, Deming Yuetiva, Carrell David, Saef Ben, Howells Bill, Budde John, Cruchaga Carlos
Abstract excerpt
INTRODUCTION: A recent study found a significant increase of ABCA7 loss-of-function variants in Alzheimer's disease (AD) cases compared to controls. Some variants were located on noncoding regions, but it was demonstrated that they affect splicing. Here, we try to replicate the association between AD risk and ABCA7 loss-of-function variants at both the single-variant and gene level in a large and...
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