Article
Mutations modifying sporadic Alzheimer's disease age of onset.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Dec 2016
Vélez Jorge I, Lopera Francisco, Patel Hardip R, Johar Angad S, Cai Yeping, Rivera Dora, Tobón Carlos, Villegas Andrés, Sepulveda-Falla Diego, Lehmann Shaun G, Easteal Simon, Mastronardi Claudio A, Arcos-Burgos Mauricio
Abstract excerpt
The identification of mutations modifying the age of onset (AOO) in Alzheimer's disease (AD) is crucial for understanding the natural history of AD and, therefore, for early interventions. Patients with sporadic AD (sAD) from a genetic isolate in the extremes of the AOO distribution were whole-exome genotyped. Single- and multi-locus linear mixed-effects models were used to identify functional variants modifying...
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