Ontology highlight
ABSTRACT:
SUBMITTER: Allen M
PROVIDER: S-EPMC5217615 | biostudies-literature | 2017 Feb
REPOSITORIES: biostudies-literature
Allen Mariet M Lincoln Sarah J SJ Corda Morgane M Watzlawik Jens O JO Carrasquillo Minerva M MM Reddy Joseph S JS Burgess Jeremy D JD Nguyen Thuy T Malphrus Kimberly K Petersen Ronald C RC Graff-Radford Neill R NR Dickson Dennis W DW Ertekin-Taner Nilüfer N
Neurology. Genetics 20170105 1
<h4>Objective</h4>To investigate and characterize putative "loss-of-function" (LOF) adenosine triphosphate-binding cassette, subfamily A member 7 (<i>ABCA7</i>) mutations reported to associate with Alzheimer disease (AD) risk.<h4>Methods</h4>We genotyped 6 previously reported <i>ABCA7</i> putative LOF variants in 1,465 participants with AD, 381 participants with other neuropathologies (non-AD), and 1,043 controls and assessed the overall mutational burden for association with different diagnosis ...[more]