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Article

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

Human mutation - 1 Jan 1996

Demmer L A, Kim J M, de Martinville B, Dowton S B

Abstract excerpt

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Share to Amino Acid Metabolism, Inborn Errors
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Ornithine Carbamoyltransferase

Share to Ornithine Carbamoyltransferase Deficiency Disease

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Source

Identifiers

PMID: 8829665
DOI: 10.1002/(SICI)1098-1004(1996)7:3<279::AID-HUMU16>3.0.CO;2-#

Genes

OTC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel missense mutation in the exon containing the putative ornithine-binding domain of the OTC enzyme in a female.PMID 8829665Read ↗

Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiency.Semantic proximity Read ↗

Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiencySemantic proximity Read ↗

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

[Analysis of ornithine transcarbamylase gene mutations in three boys affected with late-onset ornithine transcarbamylase deficiency].Semantic proximity Read ↗

A novel splice site mutation in OTC gene of a female with ornithine transcarbamylase deficiency and her asymptomatic mosaic father.Semantic proximity Read ↗

Mutation Study of Malaysian Patients with Ornithine Transcarbamylase Deficiency: Clinical, Molecular, and Bioinformatics Analyses of Two Novel Missense Mutations of the OTC Gene.Semantic proximity Read ↗

The ornithine transcarbamylase (OTC) gene: mutations in 50 Japanese families with OTC deficiency.Semantic proximity Read ↗

Pedigree and Functional Analysis of Two Cryptic OTC Variants Causing Ornithine Transcarbamylase Deficiency in Two Unrelated Chinese Male Patients.Semantic proximity Read ↗

[Molecular diagnosis of OTC gene mutation in a Chinese family with ornithine transcarbamylase deficiency].Semantic proximity Read ↗

Ornithine transcarbamylase deficiency: a novel splice site mutation in a family with meiotic recombination and a new useful SNP for diagnosis.Semantic proximity Read ↗

Mutations and polymorphisms in the human ornithine transcarbamylase gene.Semantic proximity Read ↗

Polymorphisms in the human ornithine transcarbamylase gene useful for allele tracking. Mutations in brief no. 193. Online.Semantic proximity Read ↗

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