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Article

Specificity of PCR-SSCP for detection of the mutant ornithine transcarbamylase (OTC) gene in patients with OTC deficiency.

Journal of inherited metabolic disease - 1 Jan 1993

Hoshide R, Matsuura T, Komaki S, Koike E, Ueno I, Matsuda I

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Share to Ornithine Carbamoyltransferase

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

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Source

Identifiers

PMID: 8295401
DOI: 10.1007/BF00714278

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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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Specificity of PCR-SSCP for detection of the mutant ornithine transcarbamylase (OTC) gene in patients with OTC deficiency.PMID 8295401Read ↗

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

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

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

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

[DNA diagnosis of ornithine transcarbamylase deficiency by PCR method].Semantic proximity Read ↗

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

OTC gene in ornithine transcarbamylase deficiency: clinical course and mutational spectrum in seven Korean patients.Semantic proximity Read ↗

[Analysis of ornithine transcarbamylase gene mutations in three boys affected with late-onset 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 ↗

Screening for gene deletions and known mutations in 13 patients with 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 ↗

[Applying multiplex ligation-dependent probe amplification in the diagnosis of 5 cases with ornithine transcarbamylase deficiency].Semantic proximity Read ↗

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