About: Molecular pathophysiology of congenital defects of erythroid production in Czech Republic     Goto   Sponge   NotDistinct   Permalink

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  • Molecular-genetic diagnosis of hemoglobinopathies and thalassemias in the Czech Republic. Congenital defect of iron transport in erythroidcells. Cellular and molecular characterization of congenital polycythemias (en)
  • Molekulárně-genetická diagnostika hemoglobinopatií a talasemií v České republice. Analýza vrozené poruchy cyklu transportu iontů železa v erytroidních buňkách. Buněčná a molekulárně-genetická charakteristika vrozených polycytémií.
Title
  • Molecular pathophysiology of congenital defects of erythroid production in Czech Republic (en)
  • Molekulární patofyziologie vybraných dědičných poruch erytropoézy
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  • NR7799
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  • Anemia; Polycythemia; Hemoglobin; Thalassemia; hemosiderosis; Beta-globin; DMT1; EPOR (en)
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  • Molecular level of several congenital defects of erythropoiesis in Czech patients were characterized. The results lead to imptoved therapy of some patients and provided novel insight into molecular pathophysiology of congenital disorders of erythropoiesi (en)
  • Byla charakterizována molekulární podstata onemocnění u 40 pacientů s hemoglobinopatiemi, což ovlivnilo i léčebné postupy u několika pacientů. Byl charakterizován dopad mutace DMT1 1285G-C na poruchu transportu iontů železa. (cs)
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  • Anemia
  • Beta-globin
  • DMT1
  • Hemoglobin
  • Polycythemia
  • Thalassemia
  • hemosiderosis
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