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Statements

Subject Item
n2:RIV%2F00216208%3A11120%2F08%3A00000814%21RIV09-MSM-11120___
rdf:type
skos:Concept n14:Vysledek
dcterms:description
The aim of the study was to determine the prevalence of mutations in the HFE and TFR2 genes together with HCV infection in patients with porphyria cutanea tarda in the Czech population, and to make comparison of the iron status among the respective genotypes. There was a very high prevalence of the C282Y and H63D mutations observed in patients with PCT accompanied by mild degrees of iron overload, which was genotype dependent. Cílem práce bylo zjistit prevalenci mutací v genech HFE a TFR2, HCV infekci u pacientů s porphyria cutanea tarda v české populaci, a parametry metabolismu železa u příslušných genotypů. Byla zjištěna vysoká prevalence mutací C282Y a H63D u daných pacientů, jež byla doprovázena mírným stupněm přetížení železem, závislým na genotypu. The aim of the study was to determine the prevalence of mutations in the HFE and TFR2 genes together with HCV infection in patients with porphyria cutanea tarda in the Czech population, and to make comparison of the iron status among the respective genotypes. There was a very high prevalence of the C282Y and H63D mutations observed in patients with PCT accompanied by mild degrees of iron overload, which was genotype dependent.
dcterms:title
High prevalence of HFE gene mutations in patients with porphyria cutanea tarda in the Czech Republic High prevalence of HFE gene mutations in patients with porphyria cutanea tarda in the Czech Republic Vysoká prevalence mutací v HFE genu u pacientů s porphyria cutanea tarda v České republice
skos:prefLabel
High prevalence of HFE gene mutations in patients with porphyria cutanea tarda in the Czech Republic High prevalence of HFE gene mutations in patients with porphyria cutanea tarda in the Czech Republic Vysoká prevalence mutací v HFE genu u pacientů s porphyria cutanea tarda v České republice
skos:notation
RIV/00216208:11120/08:00000814!RIV09-MSM-11120___
n4:aktivita
n8:Z
n4:aktivity
Z(MSM0021620814)
n4:cisloPeriodika
3
n4:dodaniDat
n13:2009
n4:domaciTvurceVysledku
n5:9047409 n5:6151388 n5:1579630 n5:3566447 n5:1217941
n4:druhVysledku
n18:J
n4:duvernostUdaju
n10:S
n4:entitaPredkladatele
n9:predkladatel
n4:idSjednocenehoVysledku
370059
n4:idVysledku
RIV/00216208:11120/08:00000814
n4:jazykVysledku
n15:eng
n4:klicovaSlova
chronic hepatitis C; haemochromatosis; HFE gene; porphyria cutanea tarda; TFR2 gene
n4:klicoveSlovo
n6:HFE%20gene n6:chronic%20hepatitis%20C n6:TFR2%20gene n6:porphyria%20cutanea%20tarda n6:haemochromatosis
n4:kodStatuVydavatele
GB - Spojené království Velké Británie a Severního Irska
n4:kontrolniKodProRIV
[9FB5C80C3BC9]
n4:nazevZdroje
British Journal of Dermatology
n4:obor
n17:FB
n4:pocetDomacichTvurcuVysledku
5
n4:pocetTvurcuVysledku
6
n4:rokUplatneniVysledku
n13:2008
n4:svazekPeriodika
159
n4:tvurceVysledku
Horák, Jiří Stránský, Jaroslav Dostalíková-Čimburová, Markéta Krátká, Karolína Michalíková, Helena Vránová, Jana
n4:wos
000258470700009
n4:zamer
n12:MSM0021620814
s:issn
0007-0963
s:numberOfPages
6
n11:organizacniJednotka
11120