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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2013
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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 |
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