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Browsing by Author "María Antonia Vilaseca"

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Browsing by Author "María Antonia Vilaseca"

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    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 ...