About: Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: Biochemical and molecular genetic analysis in two Czech families with xanthinuria type I

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About: Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: Biochemical and molecular genetic analysis in two Czech families with xanthinuria type I Goto Sponge NotDistinct Permalink

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
rdfs:seeAlso	http://dx.doi.org/10.1016/j.cca.2011.08.038
Description	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. 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)
Title	Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: Biochemical and molecular genetic analysis in two Czech families with xanthinuria type I Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: Biochemical and molecular genetic analysis in two Czech families with xanthinuria type I (en)
skos:prefLabel	Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: Biochemical and molecular genetic analysis in two Czech families with xanthinuria type I Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: Biochemical and molecular genetic analysis in two Czech families with xanthinuria type I (en)
skos:notation	RIV/00064165:_____/12:12747!RIV13-MZ0-00064165
http://linked.open...avai/riv/aktivita	P Z
http://linked.open...avai/riv/aktivity	P(1M0520), Z(MSM0021620806), Z(MZ0VFN2005)
http://linked.open...iv/cisloPeriodika	1-2
http://linked.open...vai/riv/dodaniDat	2013
http://linked.open...aciTvurceVysledku	Šebesta, Ivan Bártl, Josef Krijt, Jakub
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Všeobecná fakultní nemocnice v Praze / (nerozlišená součást)
http://linked.open...dnocenehoVysledku	154798
http://linked.open...ai/riv/idVysledku	RIV/00064165:_____/12:12747
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Xanthinuria; Xanthine dehydrogenase/oxidase; Hypouricemia (en)
http://linked.open.../riv/klicoveSlovo	Hypouricemia Xanthine dehydrogenase/oxidase Xanthinuria
http://linked.open...odStatuVydavatele	NL - Nizozemsko
http://linked.open...ontrolniKodProRIV	[82477C27B2D6]
http://linked.open...i/riv/nazevZdroje	Clinica Chimica Acta
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	3 (xsd:int)
http://linked.open...cetTvurcuVysledku	7 (xsd:int)
http://linked.open...vavai/riv/projekt	Center for Applied Genomics
http://linked.open...UplatneniVysledku	2012
http://linked.open...v/svazekPeriodika	413
http://linked.open...iv/tvurceVysledku	Bártl, Josef Krijt, Jakub Stibůrková, Blanka Šebesta, Ivan Kořínek, Martin Gerhatová, EEva Vyleťal, Petr
http://linked.open...ain/vavai/riv/wos	000298462400013
http://linked.open...n/vavai/riv/zamer	Molekulární biologie a patologie buňky za normy a u vybraných klinicky závažných patologických procesů Diagnosis and treatment of inherited disorders II
issn	0009-8981
number of pages	7 (xsd:int)

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