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 hex...

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Bibliographic Details
Published in:Haematologica
Main Authors: Karen M.K. de Vooght, Wouter W. van Solinge, Annet C. van Wesel, Sabina Kersting, Richard van Wijk
Format: Article
Language:English
Published: Ferrata Storti Foundation 2009-09-01
Online Access:https://haematologica.org/article/view/5341