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Article

Mutation Screening of mtDNA Combined Targeted Exon Sequencing in a Cohort With Suspected Hereditary Optic Neuropathy.

Translational vision science & technology - 1 Jul 2020

Li Jian-Kang, Li Wei, Gao Feng-Juan, Qu Shou-Fang, Hu Fang-Yuan, Zhang Sheng-Hai, Li Li-Li, Wang Zi-Wei, Qiu Yong, Wang Lu-Sheng, Huang Jie, Wu Ji-Hong, Chen Fang

Abstract excerpt

Purpose: Leber hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (ADOA) are the two commonest forms of hereditary optic neuropathy. The aim of this study was to comprehensively investigate the incidence and spectrum of mutations in patients with suspected hereditary optic ne...

Topics

DNA, Mitochondrial
Exons
Humans
Membrane Proteins
Mutation
Optic Atrophy, Hereditary, Leber
Optic Nerve Diseases

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 32855858
DOI: 10.1167/tvst.9.8.11
PMCID: PMC7422818

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-32855858-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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