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Article

A novel mutation of the OPA1 gene in a Japanese patient with autosomal dominant optic atrophy.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie - 1 Oct 2007

Ban Yuriko, Yoshida Yusuke, Kawasaki Satoshi, Mochida Chikako

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

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Source

Identifiers

PMID: 17579882
DOI: 10.1007/s00417-007-0598-1

Genes

OPA1

Provenance

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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A novel mutation of the OPA1 gene in a Japanese patient with autosomal dominant optic atrophy.PMID 17579882Read ↗

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Heterozygous type 1 Autosomal Dominant Optic Atrophy (ADOA) with OPA1 c.1936-2A>G genetic variant.Semantic proximity Read ↗

[A novel mutation of the type 1 optic atrophy(OPA1) gene in a Japanese family with OPA1].Semantic proximity Read ↗

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Clinical and genetic features of eight Chinese autosomal-dominant optic atrophy pedigrees with six novel OPA1 pathogenic variants.Semantic proximity Read ↗

Dominant optic atrophy: novel OPA1 mutations and revised prevalence estimates.Semantic proximity Read ↗

A novel OPA1 mutation responsible for autosomal dominant optic atrophy with high frequency hearing loss in a Chinese family.Semantic proximity Read ↗

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