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Article

Nonsense-codon mutations of the ornithine aminotransferase gene with decreased levels of mutant mRNA in gyrate atrophy.

American journal of human genetics - 1 Jul 1992

Mashima Y, Murakami A, Weleber R G, Kennaway N G, Clarke L, Shiono T, Inana G

Abstract excerpt

A generalized deficiency of the mitochondrial matrix enzyme ornithine aminotransferase (OAT) is the inborn error in gyrate atrophy (GA), an autosomal recessive degenerative disease of the retina and choroid of the eye. Mutations in the OAT gene show a high degree of molecular heterogeneity in GA, reflecting the genetic heterogeneity in this disease. Using the combined techniques of PCR, denaturing gradient gel...

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Source

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Identifiers

PMID: 1609808
PMCID: PMC1682884

Genes

OAT
CGA
TAT

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Nonsense-codon mutations of the ornithine aminotransferase gene with decreased levels of mutant mRNA in gyrate atrophy.PMID 1609808Read ↗

A single-base change at a splice acceptor site in the ornithine aminotransferase gene causes abnormal RNA splicing in gyrate atrophy.Semantic proximity Read ↗

Splicing defect at the ornithine aminotransferase (OAT) locus in gyrate atrophy.Semantic proximity Read ↗

Rapid and efficient molecular analysis of gyrate atrophy using denaturing gradient gel electrophoresis.Semantic proximity Read ↗

Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences.Semantic proximity Read ↗

Variable phenotypes of gyrate atrophy in siblings with a nonsense mutation in OAT gene.Semantic proximity Read ↗

Mild Phenotypes of Gyrate Atrophy in a Heterozygous Carrier with One Variant Allele of OAT.Semantic proximity Read ↗

Three novel mutations of the ornithine aminotransferase (OAT) gene in gyrate atrophy.Semantic proximity Read ↗

Heterogeneity and uniqueness of ornithine aminotransferase mutations found in Japanese gyrate atrophy patients.Semantic proximity Read ↗

Deficit of human ornithine aminotransferase in gyrate atrophy: Molecular, cellular, and clinical aspects.Semantic proximity Read ↗

Mild Phenotypes of Gyrate Atrophy in a Carrier with One Variant Allele of <em>OAT</em>Semantic proximity Read ↗

First report of c.425-1G>A mutation in ornithine aminotransferase gene causing gyrate atrophy of the choroid and retina with hyperornithinemia.Semantic proximity Read ↗

Vitamin B6-responsive ornithine aminotransferase deficiency with a novel mutation G237D.Semantic proximity Read ↗

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