About: High prevalence of HFE gene mutations in patients with porphyria cutanea tarda in the Czech Republic

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About: High prevalence of HFE gene mutations in patients with porphyria cutanea tarda in the Czech Republic 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
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)
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)
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)
skos:notation	RIV/00216208:11120/08:00000814!RIV09-MSM-11120___
http://linked.open...avai/riv/aktivita	Z
http://linked.open...avai/riv/aktivity	Z(MSM0021620814)
http://linked.open...iv/cisloPeriodika	3
http://linked.open...vai/riv/dodaniDat	2009
http://linked.open...aciTvurceVysledku	Horák, Jiří Vránová, Jana Krátká, Karolína Dostalíková-Čimburová, Markéta Stránský, Jaroslav
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	Univerzita Karlova v Praze / 3. lékařská fakulta
http://linked.open...dnocenehoVysledku	370059
http://linked.open...ai/riv/idVysledku	RIV/00216208:11120/08:00000814
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	chronic hepatitis C; haemochromatosis; HFE gene; porphyria cutanea tarda; TFR2 gene (en)
http://linked.open.../riv/klicoveSlovo	HFE gene porphyria cutanea tarda haemochromatosis chronic hepatitis C TFR2 gene
http://linked.open...odStatuVydavatele	GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV	[9FB5C80C3BC9]
http://linked.open...i/riv/nazevZdroje	British Journal of Dermatology
http://linked.open...in/vavai/riv/obor	FB
http://linked.open...ichTvurcuVysledku	5 (xsd:int)
http://linked.open...cetTvurcuVysledku	6 (xsd:int)
http://linked.open...UplatneniVysledku	2008
http://linked.open...v/svazekPeriodika	159
http://linked.open...iv/tvurceVysledku	Horák, Jiří Stránský, Jaroslav Vránová, Jana Dostalíková-Čimburová, Markéta Krátká, Karolína Michalíková, Helena
http://linked.open...ain/vavai/riv/wos	000258470700009
http://linked.open...n/vavai/riv/zamer	Prevention, diagnostics and therapy of diabetes mellitus, metabolic and endocrine damage of organism
issn	0007-0963
number of pages	6 (xsd:int)
http://localhost/t...ganizacniJednotka	11120
is http://linked.open...avai/riv/vysledek of	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 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

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