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Article

In vitro demonstration of intra-locus compensation using the ornithine transcarbamylase protein as model.

Human molecular genetics - 15 Sept 2007

Suriano Gianpaolo, Azevedo Luisa, Novais Marta, Boscolo Barbara, Seruca Raquel, Amorim Antonio, Ghibaudi Elena Maria

Abstract excerpt

Ornithine transcarbamylase deficiency (OTCD) is an X-linked inborn defect of metabolism of the urea cycle, which causes hyperamonemia. Mutations of the OTC gene have been recognized as the genetic cause underlying the OTC deficiency. The severity of the disease is associated with the type of mutation, leading either to neonatal onset of hyperammonemia or to a later appearance of the disease. The mutation...

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Share to Amino Acid Substitution
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17613537
DOI: 10.1093/hmg/ddm172

Genes

OTC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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In vitro demonstration of intra-locus compensation using the ornithine transcarbamylase protein as model.PMID 17613537Read ↗

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