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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
Sheng Jin, Pau Pastor, Breanna Cooper, Sebastian Cervantes, Bruno A Benitez, Cristina Razquin, Alison Goate, Ibero-American Alzheimer Disease Genetics Group Researchers, Carlos Cruchaga Alzheimer's Research & Therapy 2012, 4:34 (20 August 2012)
Abstract | Full text | PDF
| PubMed
| F1000 Biology
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Editor’s summary
Pooled-DNA sequencing identifies novel GRN and MAPT mutations that match the frequency of APP, PSEN1 and PSEN2 mutations in clinical Alzheimer's disease (AD) cases, suggesting an influence on frontotemporal dementia and AD phenotypes.
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