Differential burden of rare protein truncating variants in Alzheimer’s disease patients compared to centenarians

We compared coding region variants of 53 cognitively healthy centenarians and 45 patients with Alzheimer’s disease (AD), all of Ashkenazi Jewish (AJ) ancestry. Despite the small sample size, the known AD risk variant APOE4 reached genome-wide significance, indicating the advantage of utilizing ‘supe...

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Dades bibliogràfiques
Publicat a:Hum Mol Genet
Autors principals: Freudenberg-Hua, Yun, Li, Wentian, Abhyankar, Avinash, Vacic, Vladimir, Cortes, Vanessa, Ben-Avraham, Danny, Koppel, Jeremy, Greenwald, Blaine, Germer, Soren, Darnell, Robert B., Barzilai, Nir, Freudenberg, Jan, Atzmon, Gil, Davies, Peter
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2016
Matèries:
Association Studies Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5181592/
https://ncbi.nlm.nih.gov/pubmed/27260402
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddw150
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