Two new mutations in the HIF2A gene associated with erythrocytosis()

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, wh...

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Detalhes bibliográficos
Main Authors: Percy, Melanie J., Chung, Yu Jin, Harrison, Claire, Mercieca, Jane, Hoffbrand, A. Victor, Dinardo, Carla L., Santos, Paulo C.J.L., Fonseca, Guilherme H.H., Gualandro, Sandra F.M., Pereira, Alexandre C., Lappin, Terence R.J., McMullin, Mary Frances, Lee, Frank S.
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3399664/
https://ncbi.nlm.nih.gov/pubmed/22367913
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajh.23123
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