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Article

A Mutation in DAOA Modifies the Age of Onset in PSEN1 E280A Alzheimer's Disease.

Neural plasticity - 1 Jan 2016

Vélez Jorge I, Rivera Dora, Mastronardi Claudio A, Patel Hardip R, Tobón Carlos, Villegas Andrés, Cai Yeping, Easteal Simon, Lopera Francisco, Arcos-Burgos Mauricio

Abstract excerpt

We previously reported age of onset (AOO) modifier genes in the world's largest pedigree segregating early-onset Alzheimer's disease (AD), caused by the p.Glu280Ala (E280A) mutation in the PSEN1 gene. Here we report the results of a targeted analysis of functional exonic variants in those AOO modifier genes in sixty individuals with PSEN1 E280A AD who were whole-exome genotyped for ~250,000 variants. Standard...

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Source

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Identifiers

PMID: 26949549
DOI: 10.1155/2016/9760314
PMCID: PMC4753688

Genes

DAOA
PSEN1
CLUAP1
EXOC2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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