Comprehensive Screening for Disease Risk Variants in Early-Onset Alzheimer’s Disease Genes in African Americans Identifies Novel PSEN Variants

We conducted a comprehensive screening of rare coding variants in an African American cohort to identify novel pathogenic mutations within the early-onset Alzheimer’s disease (EOAD) genes (APP PSEN1, and PSEN2) in this understudied population. Whole-exome sequencing of 238 African American subjects...

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Detalhes bibliográficos
Publicado no:J Alzheimers Dis
Main Authors: Songo, Aurelie N’, Carrasquillo, Minerva M., Wang, Xue, Nguyen, Thuy, Asmann, Yan, Younkin, Steven G., Allen, Mariet, Duara, Ranjan, Custo, Maria T. Greig, Graff-Radford, Neill, Ertekin-Taner, Nilüfer
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6774612/
https://ncbi.nlm.nih.gov/pubmed/28106563
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/JAD-161185
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