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Article

Identification of a Pathogenic PSEN1 Ala285Val Mutation Associated with Early-Onset Alzheimer's Disease.

Current Alzheimer research - 1 Jan 2020

Vo Van Giau, Pyun Jung-Min, Bagyinszky Eva, An Seong S A, Kim Sang Y

Abstract excerpt

BACKGROUND: Presenilin 1 (PSEN1) was suggested as the most common causative gene of early onset Alzheimer's Disease (AD). METHODS: Patient who presented progressive memory decline in her 40s was enrolled in this study. A broad battery of neuropsychological tests and neuroimaging was applied to make the diagnosis. Genetic tests were performed in the patient to evaluate possible mutations using whole exome...

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PMID: 32589559
DOI: 10.2174/1567205017666200626210727

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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