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Article

Haplotype analysis and phylogeny of ornithine transcarbamylase polymorphisms.

Annals of human genetics - 1 Nov 2002

Azevedo L, Calafell F, Vilarinho L, Amorim A

Abstract excerpt

Ornithine transcarbamylase (OT2, EC 2.1.3.3) deficiency, the most common inborn error of urea cycle, is caused by a vast number of point mutations, deletions and insertions in the respective gene. Furthermore, 12 single nucleotide polymorphisms (NSPs) have been described in the OTC gene, four of them causing an amino acid change. We have studied the frequency of these markers in two populations: Portuguese and...

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Source

Identifiers

PMID: 12516615
DOI: 10.1046/j.1469-1809.2002.00129.x

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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