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Article

Origin of the PSEN1 E280A mutation causing early-onset Alzheimer's disease.

Alzheimer's & dementia : the journal of the Alzheimer's Association - 1 Oct 2014

Lalli Matthew A, Cox Hannah C, Arcila Mary L, Cadavid Liliana, Moreno Sonia, Garcia Gloria, Madrigal Lucia, Reiman Eric M, Arcos-Burgos Mauricio, Bedoya Gabriel, Brunkow Mary E, Glusman Gustavo, Roach Jared C, Hood Leroy, Kosik Kenneth S, Lopera Francisco

Abstract excerpt

BACKGROUND: A mutation in presenilin 1 (E280A) causes early-onset Alzheimer's disease. Understanding the origin of this mutation will inform medical genetics. METHODS: We sequenced the genomes of 102 individuals from Antioquia, Colombia. We applied identity-by-descent analysis to identify regions of common ancestry. We estimated the age of the E280A mutation and the local ancestry of the haplotype harboring this...

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Identifiers

PMID: 24239249
DOI: 10.1016/j.jalz.2013.09.005
PMCID: PMC4019728

Genes

PSEN1

Variants

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