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Article

Demonstration of the spf-ash mutation in Spanish patients with ornithine transcarbamylase deficiency of moderate severity.

Human genetics - 1 Feb 1995

García-Pérez M A, Sanjurjo P, Rubio V

Abstract excerpt

We have found in patients with ornithine transcarbamylase (OTC) deficiency from two Spanish families (A and B), replacement by A of G at the 3'-end of exon 4 of the OTC gene. The same mutation is found in the spf-ash mouse, a rodent model of mild OTC deficiency, causing a neutral R129H mutation and inefficient splicing at the 5' donor site of the exon 4-intron 4 junction, with resultant 4%-7% residual OTC...

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Source

Identifiers

PMID: 7860064
DOI: 10.1007/BF00209398

Genes

OTC

Variants

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→

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Demonstration of the spf-ash mutation in Spanish patients with ornithine transcarbamylase deficiency of moderate severity.PMID 7860064Read ↗

A new mouse model of mild ornithine transcarbamylase deficiency (spf-j) displays cerebral amino acid perturbations at baseline and upon systemic immune activation.Semantic proximity Read ↗

Functional characterization of the spf/ash splicing variation in OTC deficiency of mice and man.Semantic proximity Read ↗

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 ↗

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

A splicing mutation, a nonsense mutation (Y167X) and two missense mutations (I159T and A209V) in Spanish patients with ornithine transcarbamylase deficiency.Semantic proximity Read ↗

Reduced ornithine transcarbamylase activity does not impair ureagenesis in Otc(spf-ash) mice.Semantic proximity Read ↗

Normalization of hair growth in sparse fur-abnormal skin and hair (SPF-ASH) mice by introduction of the rat ornithine transcarbamylase (OTC) gene.Semantic proximity Read ↗

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

Mutations and polymorphisms in the human ornithine transcarbamylase gene.Semantic proximity Read ↗

Four new mutations in the ornithine transcarbamylase gene.Semantic proximity Read ↗

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Identification of new mutations in the ornithine transcarbamylase (OTC) gene in Korean families.Semantic proximity Read ↗

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