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Article

Molecular detection and correction of ornithine transcarbamylase deficiency.

Trends in genetics : TIG - 1 Oct 1990

Grompe M, Jones S N, Caskey C T

Abstract excerpt

The application of new diagnostic techniques has led to improvement in carrier detection and prenatal diagnosis in ornithine transcarbamylase deficiency. Progress has also been made towards somatic gene therapy.

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

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Identifiers

PMID: 2281529
DOI: 10.1016/0168-9525(90)90255-5

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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.

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Molecular detection and correction of ornithine transcarbamylase deficiency.PMID 2281529Read ↗

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Ornithine transcarbamylase deficiency: ten new mutations and high proportion of de novo mutations in heterozygous females.Semantic proximity Read ↗

Improved molecular diagnostics for ornithine transcarbamylase deficiency.Semantic proximity Read ↗

An exon 1 deletion in OTC identified using chromosomal microarray analysis in a mother and her two affected deceased newborns: implications for the prenatal diagnosis of ornithine transcarbamylase deficiency.Semantic proximity Read ↗

The biochemical and molecular spectrum of ornithine transcarbamylase deficiency.Semantic proximity Read ↗

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

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

Identification of novel mutations in the human ornithine transcarbamylase (OTC) gene of Korean patients with OTC deficiency and transient expression of the mutant proteins in vitro.Semantic proximity Read ↗

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

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