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A Mutation in DAOA Modifies the Age of Onset in PSEN1 E280A Alzheimer's Disease

We previously reported age of onset (AOO) modifier genes in the world's largest pedigree segregating early-onset Alzheimer's disease (AD), caused by the p.Glu280Ala (E280A) mutation in the PSEN1 gene. Here we report the results of a targeted analysis of functional exonic variants in those...

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Detalles Bibliográficos
Autores principales: Vélez, Jorge I., Rivera, Dora, Mastronardi, Claudio A., Patel, Hardip R., Tobón, Carlos, Villegas, Andrés, Cai, Yeping, Easteal, Simon, Lopera, Francisco, Arcos-Burgos, Mauricio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2016
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4753688/
https://www.ncbi.nlm.nih.gov/pubmed/26949549
http://dx.doi.org/10.1155/2016/9760314