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Statements

Subject Item
n2:RIV%2F00064165%3A_____%2F12%3A12747%21RIV13-MZ0-00064165
rdf:type
skos:Concept n9:Vysledek
rdfs:seeAlso
http://dx.doi.org/10.1016/j.cca.2011.08.038
dcterms: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.
dcterms: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
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
skos:notation
RIV/00064165:_____/12:12747!RIV13-MZ0-00064165
n9:predkladatel
n10:ico%3A00064165
n4:aktivita
n20:P n20:Z
n4:aktivity
P(1M0520), Z(MSM0021620806), Z(MZ0VFN2005)
n4:cisloPeriodika
1-2
n4:dodaniDat
n19:2013
n4:domaciTvurceVysledku
n6:9185283 n6:1410938 n6:4807936
n4:druhVysledku
n18:J
n4:duvernostUdaju
n5:S
n4:entitaPredkladatele
n14:predkladatel
n4:idSjednocenehoVysledku
154798
n4:idVysledku
RIV/00064165:_____/12:12747
n4:jazykVysledku
n15:eng
n4:klicovaSlova
Xanthinuria; Xanthine dehydrogenase/oxidase; Hypouricemia
n4:klicoveSlovo
n8:Hypouricemia n8:Xanthine%20dehydrogenase%2Foxidase n8:Xanthinuria
n4:kodStatuVydavatele
NL - Nizozemsko
n4:kontrolniKodProRIV
[82477C27B2D6]
n4:nazevZdroje
Clinica Chimica Acta
n4:obor
n16:EB
n4:pocetDomacichTvurcuVysledku
3
n4:pocetTvurcuVysledku
7
n4:projekt
n13:1M0520
n4:rokUplatneniVysledku
n19:2012
n4:svazekPeriodika
413
n4:tvurceVysledku
Bártl, Josef Kořínek, Martin Vyleťal, Petr Krijt, Jakub Stibůrková, Blanka Gerhatová, EEva Šebesta, Ivan
n4:wos
000298462400013
n4:zamer
n12:MSM0021620806 n12:MZ0VFN2005
s:issn
0009-8981
s:numberOfPages
7