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Erythrocytosis associated with a novel missense mutation in the HIF2A gene

The ERYTHROPOIETIN (EPO) gene is regulated by the transcription factor Hypoxia Inducible Factor-α (HIF-α). In this pathway, Prolyl Hydroxylase Domain protein 2 (PHD2) hydroxylates two prolyl residues in HIF-α, which in turn promotes HIF-α degradation by the von Hippel Lindau (VHL) protein. Evidence...

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Detalhes bibliográficos
Principais autores: van Wijk, Richard, Sutherland, Scott, Van Wesel, Annet C.W., Huizinga, Eric G., Percy, Melanie J., Bierings, Marc, Lee, Frank S.
Formato: Artigo
Idioma:Inglês
Publicado em: Ferrata Storti Foundation 2010
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2864390/
https://ncbi.nlm.nih.gov/pubmed/20007141
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2009.017582
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