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Article

Improved molecular diagnostics for ornithine transcarbamylase deficiency.

American journal of human genetics - 1 Feb 1991

Grompe M, Caskey C T, Fenwick R G

Abstract excerpt

Since the cloning of the cDNA for X-linked ornithine transcarbamylase (OTC) in 1984, diagnostic accuracy of OTC deficiency for prenatal and carrier detection has been greatly improved by the use of linkage analysis. However, the use of RFLP-based diagnosis is limited in this and in other new mutation diseases. Here we report both the use of direct mutation detection by new PCR-based techniques and our experience...

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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: 1671317
PMCID: PMC1683033

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

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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Improved molecular diagnostics for ornithine transcarbamylase deficiency.PMID 1671317Read ↗

Four new mutations in the ornithine transcarbamylase gene.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 ↗

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

Molecular detection and correction of ornithine transcarbamylase deficiency.Semantic proximity Read ↗

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

Use of denaturing gradient gel electrophoresis for detection of mutation and prospective diagnosis in late onset ornithine transcarbamylase deficiency.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 ↗

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

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

Screening for gene deletions and known mutations in 13 patients with ornithine transcarbamylase deficiency.Semantic proximity Read ↗

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

A Novel Two–Nucleotide Deletion in the Ornithine Transcarbamylase Gene Causing Fatal Hyperammonia in Early PregnancySemantic proximity Read ↗

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