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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. Th...

Topics

Base Sequence
Blotting, Southern
Child
Chromosome Deletion
DNA
Humans
Infant
Infant, Newborn
Male
Molecular Sequence Data
Mutation
Ornithine Carbamoyltransferase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Ornithine Carbamoyltransferase Deficiency Disease

Polymerase Chain Reaction

Source

Identifiers

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

Genes

OTC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1627356-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 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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