Ontology highlight
ABSTRACT:
SUBMITTER: Bras J
PROVIDER: S-EPMC5166571 | biostudies-literature | 2016 Oct
REPOSITORIES: biostudies-literature
Neurobiology of aging 20160704
We have previously reported the whole genome genotyping analysis of 2 consanguineous siblings clinically diagnosed with early onset Alzheimer's disease (AD). In this analysis, we identified several large regions of homozygosity shared between both affected siblings, which we suggested could be candidate loci for a recessive genetic lesion underlying the early onset AD in these cases. We have now performed exome sequencing in one of these siblings and identified the potential cause of disease: th ...[more]