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Article

Mutation Screening of the CHCHD2 Gene for Alzheimer's Disease and Frontotemporal Dementia in Chinese Mainland Population.

Journal of Alzheimer's disease : JAD - 1 Jan 2018

Che Xiang-Qian, Zhao Qian-Hua, Huang Yue, Li Xia, Ren Ru-Jing, Chen Sheng-Di, Guo Qi-Hao, Wang Gang

Abstract excerpt

As an important multifunctional protein involved in regulation of mitochondrial metabolism, CHCHD2 was identified as a causative gene for Parkinson's disease (PD), yet the relationship between CHCHD2 and neurodegenerative dementia is not well understood. We directly sequenced the entire coding region of CHCHD2 gene in 150 AD patients, 84 FTD patients, and 417 controls. Four rare putative pathogenic variants of...

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Source

Identifiers

PMID: 29376860
DOI: 10.3233/JAD-170692

Genes

CHCHD2
CHD2

Variants

rs182992574
rs752705344
rs142444896
rs145190179
rs752705344
rs145190179

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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