"0009-8981" . . "B\u00E1rtl, Josef" . "[82477C27B2D6]" . "413" . "NL - Nizozemsko" . . "Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: Biochemical and molecular genetic analysis in two Czech families with xanthinuria type I"@en . "Ko\u0159\u00EDnek, Martin" . . "Vyle\u0165al, Petr" . . "7"^^ . "Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: Biochemical and molecular genetic analysis in two Czech families with xanthinuria type I" . "In this article we present clinical, biochemical and molecular genetic evidence that a previously reported p.P214QfsX4 and novel p.R825X and p.R825X sequence variants in XDH/XO gene are causing xanthinuria type I in two Czech families."@en . "Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: Biochemical and molecular genetic analysis in two Czech families with xanthinuria type I" . . "1-2" . . . . "3"^^ . . "Krijt, Jakub" . . "7"^^ . "RIV/00064165:_____/12:12747!RIV13-MZ0-00064165" . . . "P(1M0520), Z(MSM0021620806), Z(MZ0VFN2005)" . "Stib\u016Frkov\u00E1, Blanka" . "http://dx.doi.org/10.1016/j.cca.2011.08.038" . . "In this article we present clinical, biochemical and molecular genetic evidence that a previously reported p.P214QfsX4 and novel p.R825X and p.R825X sequence variants in XDH/XO gene are causing xanthinuria type I in two Czech families." . . . . . "Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: Biochemical and molecular genetic analysis in two Czech families with xanthinuria type I"@en . "Clinica Chimica Acta" . . . "Gerhatov\u00E1, EEva" . "Xanthinuria; Xanthine dehydrogenase/oxidase; Hypouricemia"@en . . "000298462400013" . "RIV/00064165:_____/12:12747" . "\u0160ebesta, Ivan" . . "154798" .