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Article

[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 we...

Topics

Adolescent
Adult
Child
Child, Preschool
DNA, Mitochondrial
Female
Humans
Male
Middle Aged
Mutation
Optic Atrophy, Hereditary, Leber

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

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

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-23042385-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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