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Article

Erythrocytosis associated with a novel missense mutation in the HIF2A gene

8 Dec 2009

Abstract excerpt

The ERYTHROPOIETIN (EPO) gene is regulated by the transcription factor Hypoxia Inducible Factor-alpha (HIF-alpha). In this pathway, Prolyl Hydroxylase Domain protein 2 (PHD2) hydroxylates two prolyl residues in HIF-alpha, which in turn promotes HIF-alpha degradation by the von Hippel Lindau (VHL) protein. Evidence that HIF-2alpha is the important isoform for EPO regulation in humans comes from the recent...

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Identifiers

PMID: 20007141
DOI: 10.3324/haematol.2009.017582

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