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Article

Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease.

Journal of medical genetics - 1 Aug 2002

Marchbank N J, Craig J E, Leek J P, Toohey M, Churchill A J, Markham A F, Mackey D A, Toomes C, Inglehearn C F

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Topics

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Share to Gene Deletion
Share to Gene Dosage
Share to Genetic Carrier Screening
Share to GTP Phosphohydrolases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Haplotypes

Share to Microsatellite Repeats

Share to Optic Atrophy, Autosomal Dominant

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Source

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Identifiers

PMID: 12161614
DOI: 10.1136/jmg.39.8.e47
PMCID: PMC1735190

Genes

OPA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease.PMID 12161614Read ↗

Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.Semantic proximity Read ↗

A phenotypic variation of dominant optic atrophy and deafness (ADOAD) due to a novel OPA1 mutation.Semantic proximity Read ↗

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

OPA1 Dominant Optic Atrophy: Pathogenesis and Therapeutic Targets.Semantic proximity Read ↗

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

Targeting the OPA1 pathway in Autosomal Dominant Optic Atrophy (ADOA): 25 years from gene discovery to therapeutic strategy.Semantic proximity Read ↗

Multiple sclerosis-like disorder in OPA1-related autosomal dominant optic atrophy.Semantic proximity Read ↗

[Not only optic neuropathy: new molecular and clinical aspects of OPA1 gene mutations].Semantic proximity Read ↗

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

Novel mutations in the OPA1 gene and associated clinical features in Japanese patients with optic atrophy.Semantic proximity Read ↗

Dominant optic atrophy: updates on the pathophysiology and clinical manifestations of the optic atrophy 1 mutation.Semantic proximity Read ↗

Meta-analysis of genotype-phenotype analysis of OPA1 mutations in autosomal dominant optic atrophy.Semantic proximity Read ↗

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