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The PSEN1, p.E318G Variant Increases the Risk of Alzheimer's Disease in APOE-ε4 Carriers

The primary constituents of plaques (Aβ42/Aβ40) and neurofibrillary tangles (tau and phosphorylated forms of tau [ptau]) are the current leading diagnostic and prognostic cerebrospinal fluid (CSF) biomarkers for AD. In this study, we performed deep sequencing of APP, PSEN1, PSEN2, GRN, APOE and MAPT...

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Detalles Bibliográficos
Autores principales: Benitez, Bruno A., Karch, Celeste M., Cai, Yefei, Jin, Sheng Chih, Cooper, Breanna, Carrell, David, Bertelsen, Sarah, Chibnik, Lori, Schneider, Julie A., Bennett, David A., Fagan, Anne M., Holtzman, David, Morris, John C., Goate, Alison M., Cruchaga, Carlos
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3750021/
https://www.ncbi.nlm.nih.gov/pubmed/23990795
http://dx.doi.org/10.1371/journal.pgen.1003685