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[Study on three common mitochondrial DNA mutations in Leber's hereditary optic neuropathy].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2012

Ma Yun-xia, Zhou Yon-gan, Zhang Jing-ping, Zhang Quan-bin, Liu Wei-la, Ren Cai-fen, Li Xiao-yu

Abstract excerpt

OBJECTIVE: To screen for genetic mutations in 35 patients with Leber's hereditary optic neuropathy (LHON). METHODS: Polymerase chain reaction and DNA sequencing were used to screen for the presence of mitochondrial DNA mutations. RESULTS: The total detection rate of top 3 common LHON mutations were 20.0%, which included 6 cases of ND4 11778 G to A, 1 case of ND1 3460 G to A. No ND6 14484 T to C mutation was...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 23042385
DOI: 10.3760/cma.j.issn.1003-9406.2012.05.004

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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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