- -

Browsing by Subject "Intermittent ataxia"

RiuNet: Institutional repository of the Polithecnic University of Valencia

Browsing by Subject "Intermittent ataxia"

Sort by: Order: Results:

  • thumb
    Mutations in the urocanase gene UROC1 are associated with urocanic aciduria 
    Espinós-Armero, Carmen Ángeles; Pineda, M.; Martínez-Rubio, D.; Aída Ormazabal; María Antonia Vilaseca; Leo J. M. Spaapen; Palau, Francesc; Rafael Artuch; Lupo,V (BMJ, 2009-06)
    [EN] 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 ...