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Identification of PSEN1 mutations p.M233L and p.R352C in Han Chinese families with early-onset familial Alzheimer's disease.

Neurobiology of aging - 1 Mar 2015

Jiang Hong-Yan, Li Guo-Dong, Dai Shao-Xing, Bi Rui, Zhang Deng-Feng, Li Zong-Fang, Xu Xiu-Feng, Zhou Tai-Cheng, Yu Li, Yao Yong-Gang

Abstract excerpt

Early-onset familial Alzheimer's disease (EOFAD) is characterized by the onset of dementia symptoms before 65 years, positive family history, high genetic predisposition, and an autosomal dominant inheritance. We aimed to investigate mutations and to characterize phenotypes in Chinese EOFAD families. Detailed clinical assessments and genetic screening for mutations in the presenilin 1 (PSEN1), presenilin 2,...

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Source

Identifiers

PMID: 25595498
DOI: 10.1016/j.neurobiolaging.2014.11.009

Genes

PSEN1
APOE

Variants

Provenance

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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