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Article

Alzheimer's Disease Genetics and ABCA7 Splicing.

Journal of Alzheimer's disease : JAD - 1 Jan 2017

Vasquez Jared B, Simpson James F, Harpole Ryan, Estus Steven

Abstract excerpt

Both common and rare polymorphisms within ABCA7 have been associated with Alzheimer's disease (AD). In particular, the rare AD associated polymorphism rs200538373 was associated with altered ABCA7 exon 41 splicing and an AD risk odds ratio of ∼1.9. To probe the role of this polymorphism in ABCA7 splicing, we used minigene studies and qPCR of human brain RNA. We report aberrant ABCA7 exon 41 splicing in the brain...

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Share to Aged, 80 and over
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to ATP-Binding Cassette Transporters

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Share to Polymorphism, Single Nucleotide

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Source

Open in PubMed Open full text

Identifiers

PMID: 28655137
DOI: 10.3233/JAD-170872
PMCID: PMC5890296

Genes

ABCA7

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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