A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiency.

doi:10.1007/BF01213087

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Article

A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiency.

Human genetics - 1 May 1991

Hata A, Matsuura T, Setoyama C, Shimada K, Yokoi T, Akaboshi I, Matsuda I

Abstract excerpt

We studied two unrelated male probands with mild ornithine transcarbamylase (OTC) (E.C.2.1.3.3) deficiency presenting a similar clinical course. Previous analyses of their liver OTCs also revealed similar properties. To identify the underlying molecular defects, we first cloned the entire coding region of the OTC gene from one proband and found a single base-substitution (C to T) leading to the substitution of...

Topics

Alleles
Amino Acid Sequence
Arginine
Base Sequence
Exons
Genotype
Heterozygote
Humans
Infant
Male
Molecular Sequence Data
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Nucleic Acid Hybridization

Oligonucleotide Probes

Ornithine Carbamoyltransferase

Ornithine Carbamoyltransferase Deficiency Disease

Orotic Acid

Pedigree

Source

Open in PubMed

Identifiers

PMID: 2037279
DOI: 10.1007/BF01213087

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2037279-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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