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Article

The ornithine transcarbamylase (OTC) gene: mutations in 50 Japanese families with OTC deficiency.

American journal of medical genetics - 5 Sept 1997

Matsuda I, Tanase S

Abstract excerpt

Mutations in the OTC gene in 50 Japanese families with OTC deficiency were reviewed in relation to the phenotype of the patients and predicted structure of the mutant enzyme. Similar to other X-linked diseases, mutant alleles in OTC deficiency are highly heterogeneous. Mutations observed in male...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 9286441

Genes

OTC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-9286441-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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The ornithine transcarbamylase (OTC) gene: mutations in 50 Japanese families with OTC deficiency.PMID 9286441Read ↗

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