Ultra-rare mutations in SRCAP segregate in Caribbean Hispanic families with Alzheimer disease

OBJECTIVE: To identify rare coding variants segregating with late-onset Alzheimer disease (LOAD) in Caribbean Hispanic families. METHODS: Whole-exome sequencing (WES) was completed in 110 individuals from 31 Caribbean Hispanic families without APOE ε4 homozygous carriers. Rare coding mutations segre...

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Publicado en:Neurol Genet
Main Authors: Vardarajan, Badri N., Tosto, Giuseppe, Lefort, Roger, Yu, Lei, Bennett, David A., De Jager, Philip L., Barral, Sandra, Reyes-Dumeyer, Dolly, Nagy, Peter L., Lee, Joseph H., Cheng, Rong, Medrano, Martin, Lantigua, Rafael, Rogaeva, Ekaterina, St George-Hyslop, Peter, Mayeux, Richard
Formato: Artigo
Idioma:Inglês
Publicado: Wolters Kluwer 2017
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5570674/
https://ncbi.nlm.nih.gov/pubmed/28852706
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000178
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