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Article

Evaluation of multiple presenilin 2 SNPs for association with early-onset sporadic Alzheimer disease.

American journal of medical genetics - 1 Aug 2002

Howell W Mathias, Brookes Anthony J

Abstract excerpt

The presenilin genes encode proteins that modify, mediate, or perform similar functions to gamma-secretase, the enzyme responsible for converting amyloid beta precursor protein (APP) into beta-amyloid. Mutations in the presenilin genes cause an increased production of Abeta42, the aberrant form of beta-amyloid found in the neural plaques of Alzheimer disease patients. Previously reported association studies of...

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Source

Identifiers

PMID: 12210343
DOI: 10.1002/ajmg.10533

Genes

PSEN2
APOE
APP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Evaluation of multiple presenilin 2 SNPs for association with early-onset sporadic Alzheimer disease.PMID 12210343Read ↗

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