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Article

[The role of MT-ND1 m.3635G>A mutation in Leber's hereditary optic neuropathy].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2016

Zhang Juanjuan, Zhang Zengjun, Fu Runing, Ji Yanchun, Jiang Pingping, Tong Yi, Qu Jia, Guan Minxin

Abstract excerpt

OBJECTIVE: To investigate the role of MT-ND1 m.3635G>A mutation in the pathogenesis of Leber's hereditary optic neuropathy (LHON). METHODS: Biochemical characteristics including the activity of complex Ⅰ, ATP production and oxygen consumption rate among lymphoblastoid cell lines derived from 3 carriers, 3 affected matrilineal relatives of the families and 3 controls were compared. RESULTS: Comparison of...

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Identifiers

PMID: 27984598
DOI: 10.3760/cma.j.issn.1003-9406.2016.06.001

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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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