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

A polymorphic synonymous mutation in human ornithine-delta-aminotransferase (N378N).

Nucleic acids research - 25 Apr 1991

Martin L S, Mitchell G A, Michaud J, Brody L C, Valle D

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 Chromosomes, Human, Pair 10
Share to Mutation
Share to Polymerase Chain Reaction
Share to Polymorphism, Genetic

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

Source

Open in PubMed Open full text

Identifiers

PMID: 2030983
DOI: 10.1093/nar/19.8.1962
PMCID: PMC328151

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

A polymorphic synonymous mutation in human ornithine-delta-aminotransferase (N378N).PMID 2030983Read ↗

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

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

Mutations and polymorphisms in the human ornithine transcarbamylase gene: mutation update addendum.Semantic proximity Read ↗

Y55D mutation in ornithine transcarbamylase associated with late-onset hyperammonemia in a male.Semantic proximity Read ↗

Human nonsense mutations in primary hyperammonemia – Analysis of publicized patient mutations and variations in general populations in eight disease-causing genesSemantic proximity Read ↗

The N-acetyltransferase G191 A mutation among Sudanese and Somalis.Semantic proximity Read ↗

R252W/E178G phenylalanine hydroxylase genotype in a Romanian non-PKU hyperphenylalaninaemic patient.Semantic proximity Read ↗

A novel missense mutation in the exon containing the putative ornithine-binding domain of the OTC enzyme in a female.Semantic proximity Read ↗

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

Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation.Semantic proximity Read ↗

Polymorphism in human N-acetyltransferase--the case of the missing allele.Semantic proximity Read ↗

Report of four novel variants in ASNS causing asparagine synthetase deficiency and review of literature.Semantic proximity Read ↗

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