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Article

Characterization of the human ornithine transcarbamylase 3' untranslated regulatory region.

DNA and cell biology - 1 Apr 2012

Lopes-Marques Monica, Pereira-Castro Isabel, Amorim António, Azevedo Luisa

Abstract excerpt

Mutations in the untranslated regulatory regions of genes may result in abnormal gene expression or transcriptional regulation. In this study, we characterize the ornithine transcarbamylase (OTC) mRNA isoforms of the X-linked OTC gene involved in the urea formation in the liver. Our data revealed that two major transcripts (OTC-t1 and OTC-t2) are more highly expressed than any of the other isoforms in all the...

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Source

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Identifiers

PMID: 22054066
DOI: 10.1089/dna.2011.1391
PMCID: PMC3322402

Genes

OTC

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.

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Characterization of the human ornithine transcarbamylase 3' untranslated regulatory region.PMID 22054066Read ↗

Identification of novel mutations in the human ornithine transcarbamylase (OTC) gene of Korean patients with OTC deficiency and transient expression of the mutant proteins in vitro.Semantic proximity Read ↗

Identification of RNA splicing errors resulting in human ornithine transcarbamylase deficiency.Semantic proximity Read ↗

Mutation analysis of the ornithine transcarbamylase (OTC) gene in five Japanese OTC deficiency patients revealed two known and three novel mutations including a deep intronic mutation.Semantic proximity Read ↗

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