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Article

Two new mutations in the <i>HIF2A</i> gene associated with erythrocytosis

19 Jan 2012

Abstract excerpt

Abstract Congenital or familial erythrocytosis/polycythemia can have many causes, and an emerging cause is genetic disruption of the oxygen‐sensing pathway that regulates the Erythropoietin ( EPO ) gene. More specifically, recent studies have identified erythrocytosis‐associated mutations in the HIF2A gene, which encodes for Hypoxia Inducible Factor‐2α (HIF‐2α), as well as in two genes that encode for proteins...

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Identifiers

PMID: 22367913
DOI: 10.1002/ajh.23123

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