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First mutation in the red blood cell-specific promoter of hexokinase combined with a novel missense mutation causes hexokinase deficiency and mild chronic hemolysis

BACKGROUND: Hexokinase is one of the key enzymes of glycolysis and catalyzes the phosphorylation of glucose to glucose-6-phosphate. Red blood cell-specific hexokinase is transcribed from HK1 by use of an erythroid-specific promoter. The aim of this study was to investigate the molecular basis for he...

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Main Authors: de Vooght, Karen M.K., van Solinge, Wouter W., van Wesel, Annet C., Kersting, Sabina, van Wijk, Richard
Formáid: Artigo
Teanga:Inglês
Foilsithe: Ferrata Storti Foundation 2009
Ábhair:
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2738711/
https://ncbi.nlm.nih.gov/pubmed/19608687
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2008.002881
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