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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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Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2012
Témata:
On-line přístup: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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