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Article

[Mutation analysis of presenilin 1 gene in a Chinese family affected with early-onset familial Alzheimer's disease].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Jun 2016

Lin Hua, Huang Wen, Ye Biao, Zhou Xiaoting, Mo Xuean

Abstract excerpt

OBJECTIVE: To explore the clinical phenotype and genotype in a Chinese family affected with early-onset familial Alzheimer's disease (EOFAD). METHODS: Potential mutation of beta-amyloid precursor protein (APP) gene, presenilin 1 (PSEN1) gene and apolipoprotein E (APOE) gene was detected with polymerase chain reaction (PCR) and direct sequencing. RESULTS: Homozygous APOE ε 2 allele and no gene mutation of APP gene...

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Source

Identifiers

PMID: 27264813
DOI: 10.3760/cma.j.issn.1003-9406.2016.03.010

Genes

PSEN1
APOE
APP

Variants

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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