期刊
EUROPEAN JOURNAL OF HUMAN GENETICS
卷 24, 期 12, 页码 1828-1830出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ejhg.2016.122
关键词
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资金
- National Institutes of Health [R01-AG044546, P01-AG003991, R01-AG035083]
- Alzheimer Association [NIRG-11-200110, BAND-14-338165, BFG-15362540]
- BrightFocus Foundation Alzheimer's Disease Research [A2013359S]
The accumulation of the toxic A beta 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, late-onset AD (LOAD) and familial LOAD.
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