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Article

Identification of two new aberrant splicings in the ornithine carbamoyltransferase (OCT) gene in two patients with early and late onset OCT deficiency.

Journal of inherited metabolic disease - 1 Jan 1995

Matsuura T, Hoshide R, Komaki S, Kiwaki K, Endo F, Nakamura S, Jitosho T, Matsuda I

Abstract excerpt

Ornithine carbamoyltransferase (OCT) is a liver-specific enzyme located in the mitochondrial matrix. OCT deficiency is an X-linked disease with a heterogeneous phenotype, even in affected males. We studied two male patients (K.M., K.G.) with early and late onset, respectively. OCT activity was zero in the autopsied liver of patient K.M. and was 6% of control in the biopsied liver of K.G. Sequencing of OCT cDNAs...

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PMID: 7474892
DOI: 10.1007/BF00710415

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Identification of two new aberrant splicings in the ornithine carbamoyltransferase (OCT) gene in two patients with early and late onset OCT deficiency.PMID 7474892Read ↗

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The R40H mutation in a late onset type of human ornithine transcarbamylase deficiency in male patients.Semantic proximity Read ↗

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

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