Condition: Urocanase deficiency


rs137852795 in UROC1 gene and Urocanase deficiency PMID 19304569 2009 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.

PMID 19304569 2009 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.