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Article

Mutations in the urocanase gene UROC1 are associated with urocanic aciduria.

Journal of medical genetics - 1 Jun 2009

Espinós C, Pineda M, Martínez-Rubio D, Lupo V, Ormazabal A, Vilaseca M A, Spaapen L J M, Palau F, Artuch R

Abstract excerpt

Urocanase is an enzyme in the histidine pathway encoded by the UROC1 gene. This report describes the first putative mutations, p.L70P and p.R450C, in the coding region of the UROC1 gene in a girl with urocanic aciduria presenting with mental retardation and intermittent ataxia. Computed (in silic...

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Source

Identifiers

PMID: 19304569
DOI: 10.1136/jmg.2008.060632

Genes

UROC1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19304569-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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