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Presenilin 1 and APP Gene Mutations in Early-Onset AD Families from a Southeast Region of China.

Current Alzheimer research - 1 Jan 2020

Zhou Jiajia, Chen Yi, Meng Fanxia, Zhang Kan, Liu Xiaoyan, Peng Guoping

Abstract excerpt

BACKGROUND: Early-Onset Familial Alzheimer's Disease (EOFAD) has been reported to be associated with Presenilin 1 (PSEN1), Presenilin 2 (PSEN2), and Amyloid Precursor Protein (APP) genes. The spectrum of mutations in Chinese patients with EOFAD was rarely investigated. OBJECTIVE: To investigate the spectrum of mutations in patients with EOFAD in Chinese population. METHODS: We performed whole-exome sequencing and...

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PMID: 32579498
DOI: 10.2174/1567205017666200624195809

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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