Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort

INTRODUCTION: Some familial Alzheimer's disease (AD) cases are caused by rare and highly-penetrant mutations in APP, PSEN1, and PSEN2. Mutations in GRN and MAPT, two genes associated with frontotemporal dementia (FTD), have been found in clinically diagnosed AD cases. Due to the dramatic develo...

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Detalles Bibliográficos
Autores principales: Jin, Sheng Chih, Pastor, Pau, Cooper, Breanna, Cervantes, Sebastian, Benitez, Bruno A, Razquin, Cristina, Goate, Alison, Cruchaga, Carlos
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3506948/
https://www.ncbi.nlm.nih.gov/pubmed/22906081
http://dx.doi.org/10.1186/alzrt137

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