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Article

Rapid and efficient molecular analysis of gyrate atrophy using denaturing gradient gel electrophoresis.

Investigative ophthalmology & visual science - 1 Mar 1994

Mashima Y, Shiono T, Inana G

Abstract excerpt

PURPOSE: A generalized biochemical deficiency of the mitochondrial matrix enzyme ornithine aminotransferase (OAT) is the inborn error in gyrate atrophy (GA), an autosomal recessive blinding disease of the retina and choroid of the eye. Because mutations in the OAT gene show a high degree of molecular heterogeneity in GA, the authors set out to determine the mutations by rapid and efficient methods. METHODS: The...

Topics

Alleles
Base Sequence
DNA
DNA Mutational Analysis
DNA Primers
Electrophoresis, Polyacrylamide Gel
Gyrate Atrophy
Humans
Mitochondria
Molecular Biology
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Ornithine-Oxo-Acid Transaminase

Polymerase Chain Reaction

Polymorphism, Genetic

Protein Denaturation

Source

Identifiers

PMID: 8125717

Genes

OAT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8125717-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Rapid and efficient molecular analysis of gyrate atrophy using denaturing gradient gel electrophoresis.PMID 8125717Read ↗

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

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

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

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