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Prevalence of Mitochondrial ND4 Mutations in 1281 Han Chinese Subjects With Leber's Hereditary Optic Neuropathy.

Investigative ophthalmology & visual science - 1 Jul 2015

Jiang Pingping, Liang Min, Zhang Juanjuan, Gao Yinglong, He Zheyun, Yu Han, Zhao Fuxin, Ji Yanchun, Liu Xiaoling, Zhang Minglian, Fu Qun, Tong Yi, Sun Yanhong, Zhou Xiangtian, Huang Taosheng, Qu Jia, Guan Min-Xin

Abstract excerpt

PURPOSE: To investigate the prevalence and spectrum of mitochondrial ND4 mutations in subjects with Leber's hereditary optic neuropathy (LHON). METHODS: A cohort of 1281 Chinese Han probands and 478 control subjects underwent clinical and genetic evaluation, and sequence analysis of mitochondrial (mt) DNA, as well as enzymatic assay of NADH:ubiquinone oxidoreductase. RESULTS: In this cohort, 503 probands had a...

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PMID: 26218905
DOI: 10.1167/iovs.14-16158

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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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