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Whole-exome sequencing detected a novel APP variant in a Han-Chinese family with Alzheimer's disease.

Molecular biology reports - 1 Jun 2023

Zhaoxia Wang, Chenyu Wang, ZhuangZhuang Yuan, Liangliang Fan, Xue Lin, Tieyu Tang

Abstract excerpt

BACKGROUND: Alzheimer's disease (AD) is an incurable and debilitating neurodegenerative disease that results in the progressive degeneration and death of nerve cells. Mutations in the APP gene, which encodes an amyloid precursor protein, is the strongest genetic risk factor for sporadic AD. METHODS AND RESULTS: We studied the APP gene (NM_000484.3: c.2045A > T; p.E682V) variants carried by members of a family...

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Identifiers

PMID: 37145212
DOI: 10.1007/s11033-023-08400-w

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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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