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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 neuropathy by combining mitochondrial DNA (mtDNA) genome-wide and targeted exon sequencing. Methods: A cohort of 1101...

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

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Share to Optic Atrophy, Hereditary, Leber

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Identifiers

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

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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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