Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Three novel mutations of the ornithine aminotransferase (OAT) gene in gyrate atrophy.

Genomics - 1 Oct 1992

Park J K, Herron B J, O'Donnell J J, Shih V E, Ramesh V

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acids
Share to Base Sequence
Share to OAT gene
Share to Molecular Sequence Data

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Mutation

Share to Polymerase Chain Reaction

Share to RNA, Messenger

Share to Sequence Deletion

Source

Identifiers

PMID: 1427882
DOI: 10.1016/s0888-7543(05)80271-x

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

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Three novel mutations of the ornithine aminotransferase (OAT) gene in gyrate atrophy.PMID 1427882Read ↗

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

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

Multimodal characterization of a novel mutation causing vitamin B6-responsive gyrate atrophy.Semantic proximity Read ↗

[Hyperornithinemia and gyrate atrophy: ornithine aminotransferase gene error causing a Finnish disease].Semantic proximity Read ↗

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

Current Insight into Human Ornithine Aminotransferase: A Review.Semantic proximity Read ↗

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

Seven new mutations in the human ornithine transcarbamylase gene.Semantic proximity Read ↗

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

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

⌁Select a neighboring publication to make it the new centre.