Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis

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 α and a β subunit. There are 2 main α subunits, HIF-1α and HIF-2α. Recently, a H...

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Detalhes bibliográficos
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2008
Assuntos:
Red Cells
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2396730/
https://ncbi.nlm.nih.gov/pubmed/18378852
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2008-02-137703
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