Article
The role of PHD2 mutations in the pathogenesis of erythrocytosis
1 Jul 2014
Abstract excerpt
Abstract: The transcription of the erythropoietin ( EPO ) gene is tightly regulated by the hypoxia response pathway to maintain oxygen homeostasis. Elevations in serum EPO level may be reflected in an augmentation in the red cell mass, thereby causing erythrocytosis. Studies on erythrocytosis have provided insights into the function of the oxygen-sensing pathway and the critical proteins involved in the...
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