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Article

Direct and indirect mutation analyses in patients with ornithine transcarbamylase deficiency.

Enzyme - 1 Jan 1991

Liechti-Gallati S, Dionisi C, Bachmann C, Wermuth B, Colombo J P

Abstract excerpt

Ornithine transcarbamylase (OTC) is one of 5 enzymes in the detoxification of ammonia to urea, and its deficiency, an X-linked disease, is the most common inborn error of urea genesis in humans. Because of the devastating nature of the disease there is a strong demand for reliable and rapid molecular analyses in OTC families in order to offer carrier detection and prenatal diagnosis. This paper presents the...

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Source

Identifiers

PMID: 1806371
DOI: 10.1159/000468870

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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Direct and indirect mutation analyses in patients with ornithine transcarbamylase deficiency.PMID 1806371Read ↗

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 ↗

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

First specific preimplantation genetic diagnosis for ornithine transcarbamylase deficiency.Semantic proximity Read ↗

Prenatal molecular evaluation of six fetuses in four unrelated Korean families with ornithine transcarbamylase deficiency.Semantic proximity Read ↗

Complete deletion of ornithine transcarbamylase gene confirmed by CGH array of X chromosome.Semantic proximity Read ↗

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

Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families.Semantic proximity Read ↗

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

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

Site specific screening for point mutations in ornithine transcarbamylase deficiency.Semantic proximity Read ↗

Carrier detection in a partially dominant X-linked disease: ornithine transcarbamylase deficiency.Semantic proximity Read ↗

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