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Rare Variants in APP, PSEN1 and PSEN2 Increase Risk for AD in Late-Onset Alzheimer's Disease Families

Pathogenic mutations in APP, PSEN1, PSEN2, MAPT and GRN have previously been linked to familial early onset forms of dementia. Mutation screening in these genes has been performed in either very small series or in single families with late onset AD (LOAD). Similarly, studies in single families have...

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Auteurs principaux: Cruchaga, Carlos, Chakraverty, Sumitra, Mayo, Kevin, Vallania, Francesco L. M., Mitra, Robi D., Faber, Kelley, Williamson, Jennifer, Bird, Tom, Diaz-Arrastia, Ramon, Foroud, Tatiana M., Boeve, Bradley F., Graff-Radford, Neill R., St. Jean, Pamela, Lawson, Michael, Ehm, Margaret G., Mayeux, Richard, Goate, Alison M.
Format: Artigo
Langue:Inglês
Publié: Public Library of Science 2012
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Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3270040/
https://ncbi.nlm.nih.gov/pubmed/22312439
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0031039
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