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Article

A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy.

Investigative ophthalmology & visual science - 1 Jun 2002

Thiselton Dawn L, Alexander Christiane, Taanman Jan-Willem, Brooks Simon, Rosenberg Thomas, Eiberg Hans, Andreasson Sten, Van Regemorter Nicole, Munier Francis L, Moore Anthony T, Bhattacharya Shomi S, Votruba Marcela

Abstract excerpt

PURPOSE: To characterize the spectrum of mutations in the OPA1 gene in a large international panel of patients with autosomal dominant optic atrophy (adOA), to improve understanding of the range of functional deficits attributable to sequence variants in this gene, and to assess any genotype-phenotype correlations. METHODS: All 28 coding exons of OPA1, intron-exon splice sites, 273 bp 5' to exon 1, and two...

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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, Autosomal Dominant

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Source

Identifiers

PMID: 12036970

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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