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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 muta...

Topics

Base Sequence
Blotting, Southern
Chromosome Deletion
DNA
Exons
Genetic Linkage
Haplotypes
Humans
Introns
Molecular Sequence Data
Mutation
Ornithine Carbamoyltransferase
Ornithine Carbamoyltransferase Deficiency Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Polymerase Chain Reaction

Polymorphism, Restriction Fragment Length

Source

Open in PubMed Open full text

Identifiers

PMID: 1671317
PMCID: PMC1683033

Genes

OTC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1671317-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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

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