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rdf:type
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Description
| - 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. (cs)
- 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.
- 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. (en)
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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 (en)
- Vysoká prevalence mutací v HFE genu u pacientů s porphyria cutanea tarda v České republice (cs)
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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 (en)
- Vysoká prevalence mutací v HFE genu u pacientů s porphyria cutanea tarda v České republice (cs)
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skos:notation
| - RIV/00216208:11120/08:00000814!RIV09-MSM-11120___
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http://linked.open...avai/riv/aktivita
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http://linked.open...avai/riv/aktivity
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http://linked.open...iv/cisloPeriodika
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http://linked.open...vai/riv/dodaniDat
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http://linked.open...aciTvurceVysledku
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http://linked.open.../riv/druhVysledku
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http://linked.open...iv/duvernostUdaju
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http://linked.open...titaPredkladatele
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http://linked.open...dnocenehoVysledku
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http://linked.open...ai/riv/idVysledku
| - RIV/00216208:11120/08:00000814
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http://linked.open...riv/jazykVysledku
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http://linked.open.../riv/klicovaSlova
| - chronic hepatitis C; haemochromatosis; HFE gene; porphyria cutanea tarda; TFR2 gene (en)
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http://linked.open.../riv/klicoveSlovo
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http://linked.open...odStatuVydavatele
| - GB - Spojené království Velké Británie a Severního Irska
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http://linked.open...ontrolniKodProRIV
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http://linked.open...i/riv/nazevZdroje
| - British Journal of Dermatology
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http://linked.open...in/vavai/riv/obor
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http://linked.open...ichTvurcuVysledku
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http://linked.open...cetTvurcuVysledku
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http://linked.open...UplatneniVysledku
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http://linked.open...v/svazekPeriodika
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http://linked.open...iv/tvurceVysledku
| - Horák, Jiří
- Stránský, Jaroslav
- Vránová, Jana
- Dostalíková-Čimburová, Markéta
- Krátká, Karolína
- Michalíková, Helena
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http://linked.open...ain/vavai/riv/wos
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http://linked.open...n/vavai/riv/zamer
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issn
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number of pages
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http://localhost/t...ganizacniJednotka
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is http://linked.open...avai/riv/vysledek
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