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Article

Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis.

Blood - 1 Jun 2008

Percy Melanie J, Beer Philip A, Campbell Gavin, Dekker Ad W, Green Anthony R, Oscier David, Rainey M Glenn, van Wijk Richard, Wood Marion, Lappin Terence R J, McMullin Mary Frances, Lee Frank S

Abstract excerpt

Erythrocytosis can arise from deregulation of the erythropoietin (Epo) axis resulting from defects in the oxygen-sensing pathway. Epo synthesis is controlled by the hypoxia inducible factor (HIF) complex, composed of an alpha and a beta subunit. There are 2 main alpha subunits, HIF-1 alpha and HIF-2 alpha. Recently, a HIF-2 alpha Gly537Trp mutation was identified in a family with erythrocytosis. This raises the...

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Identifiers

PMID: 18378852
DOI: 10.1182/blood-2008-02-137703
PMCID: PMC2396730

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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