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Two novel mutations (p.(Ser160Pro) and p.(Arg472Cys)) causing glucose-6-phosphate isomerase deficiency are associated with erythroid dysplasia and inappropriately suppressed hepcidin.
Mojzikova, Renata; Koralkova, Pavla; Holub, Dusan; Saxova, Zuzana; Pospisilova, Dagmar; Prochazkova, Daniela; Dzubak, Petr; Horvathova, Monika; Divoky, Vladimir.
Afiliación
  • Mojzikova R; Department of Biology, Faculty of Medicine and Dentistry, Palacky University, Olomouc, Czech Republic. Electronic address: r.mojzikova@gmail.com.
  • Koralkova P; Department of Biology, Faculty of Medicine and Dentistry, Palacky University, Olomouc, Czech Republic; Institute of Molecular and Translational Medicine, Faculty of Medicine and Dentistry, Palacky University, Olomouc, Czech Republic.
  • Holub D; Institute of Molecular and Translational Medicine, Faculty of Medicine and Dentistry, Palacky University, Olomouc, Czech Republic.
  • Saxova Z; Department of Biology, Faculty of Medicine and Dentistry, Palacky University, Olomouc, Czech Republic.
  • Pospisilova D; Department of Pediatrics, University Hospital and Faculty of Medicine and Dentistry, Olomouc, Czech Republic.
  • Prochazkova D; Department of Pediatrics, Masaryk Hospital in Usti nad Labem, Czech Republic.
  • Dzubak P; Institute of Molecular and Translational Medicine, Faculty of Medicine and Dentistry, Palacky University, Olomouc, Czech Republic.
  • Horvathova M; Department of Biology, Faculty of Medicine and Dentistry, Palacky University, Olomouc, Czech Republic.
  • Divoky V; Department of Biology, Faculty of Medicine and Dentistry, Palacky University, Olomouc, Czech Republic.
Blood Cells Mol Dis ; 69: 23-29, 2018 03.
Article en En | MEDLINE | ID: mdl-28803808
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Sustitución de Aminoácidos / Células Eritroides / Hepcidinas / Glucosa-6-Fosfato Isomerasa / Anemia Hemolítica Congénita no Esferocítica / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Child / Female / Humans / Male Idioma: En Revista: Blood Cells Mol Dis Asunto de la revista: HEMATOLOGIA Año: 2018 Tipo del documento: Article
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Sustitución de Aminoácidos / Células Eritroides / Hepcidinas / Glucosa-6-Fosfato Isomerasa / Anemia Hemolítica Congénita no Esferocítica / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Child / Female / Humans / Male Idioma: En Revista: Blood Cells Mol Dis Asunto de la revista: HEMATOLOGIA Año: 2018 Tipo del documento: Article