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Article

Heterogeneity and uniqueness of ornithine aminotransferase mutations found in Japanese gyrate atrophy patients.

Current eye research - 1 Jul 1996

Mashima Y, Shiono T, Tamai M, Inana G

Abstract excerpt

PURPOSE: To identify mutations in ornithine aminotransferase (OAT) in seven Japanese families with gyrate atrophy (GA), an autosomal recessive chorioretinal degeneration of the eye caused by a generalized biochemical deficiency in OAT; mutations in the OAT gene have shown a high degree of molecular heterogeneity. METHODS: DNA was prepared from patients' fibroblasts and analyzed by polymerase-chain-reaction...

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Source

Identifiers

PMID: 8670789
DOI: 10.3109/02713689609003464

Genes

OAT

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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Heterogeneity and uniqueness of ornithine aminotransferase mutations found in Japanese gyrate atrophy patients.PMID 8670789Read ↗

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

Gyrate atrophy of the choroid and retina diagnosed by ornithine-δ-aminotransferase gene analysis: a case report.Semantic proximity Read ↗

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