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Integration of bioinformatics and imaging informatics for identifying rare PSEN1 variants in Alzheimer’s disease

BACKGROUND: Pathogenic mutations in PSEN1 are known to cause familial early-onset Alzheimer’s disease (EOAD) but common variants in PSEN1 have not been found to strongly influence late-onset AD (LOAD). The association of rare variants in PSEN1 with LOAD-related endophenotypes has received little att...

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Detalles Bibliográficos
Autores principales: Nho, Kwangsik, Horgusluoglu, Emrin, Kim, Sungeun, Risacher, Shannon L., Kim, Dokyoon, Foroud, Tatiana, Aisen, Paul S., Petersen, Ronald C., Jack, Clifford R., Shaw, Leslie M., Trojanowski, John Q., Weiner, Michael W., Green, Robert C., Toga, Arthur W., Saykin, Andrew J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4989889/
https://www.ncbi.nlm.nih.gov/pubmed/27535542
http://dx.doi.org/10.1186/s12920-016-0190-9