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SORL1 variants across Alzheimer's disease European American cohorts

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 wor...

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Dettagli Bibliografici
Pubblicato in:Eur J Hum Genet
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2016
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5117924/
https://ncbi.nlm.nih.gov/pubmed/27650968
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.122
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