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Article

Screening for gene deletions and known mutations in 13 patients with ornithine transcarbamylase deficiency.

Biochemical medicine and metabolic biology - 1 Jun 1992

Suess P J, Tsai M Y, Holzknecht R A, Horowitz M, Tuchman M

Abstract excerpt

We analyzed DNA from 13 males with ornithine transcarbamylase (OTC) deficiency for gene deletions and known point mutations using the polymerase chain reaction (PCR), allelle-specific oligonucleotide (ASO) hybridization, and Southern blotting with full-length OTC cDNA and exon-specific probes. Three patients were found to have deletions: one was missing the whole OTC gene; a second patient had a deletion of both...

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Source

Identifiers

PMID: 1627356
DOI: 10.1016/0885-4505(92)90033-u

Genes

OTC

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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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Screening for gene deletions and known mutations in 13 patients with ornithine transcarbamylase deficiency.PMID 1627356Read ↗

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

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

Four new mutations in the ornithine transcarbamylase gene.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 ↗

[Analysis of ornithine transcarbamylase gene mutations in three boys affected with late-onset ornithine transcarbamylase deficiency].Semantic proximity Read ↗

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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 ↗

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