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Article

Site specific screening for point mutations in ornithine transcarbamylase deficiency.

Journal of medical genetics - 1 Jul 1992

Feldmann D, Rozet J M, Pelet A, Hentzen D, Briand P, Hubert P, Largilliere C, Rabier D, Farriaux J P, Munnich A

Abstract excerpt

Ornithine transcarbamylase (OTC) deficiency is a frequent X linked disorder of the urea cycle which is responsible for lethal neonatal hyperammonaemia in males and for various clinical symptoms in heterozygous females. In order to improve the efficiency of our screening for mutant genotypes, we focused on molecular domains of functional or structural importance in the OTC gene, namely the carbamyl phosphate...

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

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Source

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Identifiers

PMID: 1353535
PMCID: PMC1016021

Genes

OTC

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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Site specific screening for point mutations in ornithine transcarbamylase deficiency.PMID 1353535Read ↗

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

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

Mutational spectrum and linkage disequilibrium patterns at the ornithine transcarbamylase gene (OTC).Semantic proximity Read ↗

Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene.Semantic proximity Read ↗

Relative frequency of mutations causing ornithine transcarbamylase deficiency in 78 families.Semantic proximity Read ↗

Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype.Semantic proximity Read ↗

Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update.Semantic proximity Read ↗

Identification of new mutations in the ornithine transcarbamylase (OTC) gene in Korean families.Semantic proximity Read ↗

Direct and indirect mutation analyses in patients with ornithine transcarbamylase deficiency.Semantic proximity Read ↗

A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiency.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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