ABCA7 loss-of-function variants, expression, and neurologic disease risk

OBJECTIVE: To investigate and characterize putative “loss-of-function” (LOF) adenosine triphosphate–binding cassette, subfamily A member 7 (ABCA7) mutations reported to associate with Alzheimer disease (AD) risk. METHODS: We genotyped 6 previously reported ABCA7 putative LOF variants in 1,465 partic...

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Detalhes bibliográficos
Publicado no:Neurol Genet
Main Authors: Allen, Mariet, Lincoln, Sarah J., Corda, Morgane, Watzlawik, Jens O., Carrasquillo, Minerva M., Reddy, Joseph S., Burgess, Jeremy D., Nguyen, Thuy, Malphrus, Kimberly, Petersen, Ronald C., Graff-Radford, Neill R., Dickson, Dennis W., Ertekin-Taner, Nilüfer
Formato: Artigo
Idioma:Inglês
Publicado em: Wolters Kluwer 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5217615/
https://ncbi.nlm.nih.gov/pubmed/28097223
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000126
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