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Pulmonary artery pressure and iron deficiency in patients with upregulation of hypoxia sensing due to homozygous VHL(R200W) mutation (Chuvash polycythemia)

BACKGROUND: Patients with Chuvash polycythemia, (homozygosity for the R200W mutation in the von Hippel Lindau gene (VHL)), have elevated levels of hypoxia inducible factors HIF-1 and HIF-2, often become iron-deficient secondary to phlebotomy, and have elevated estimated pulmonary artery pressure by...

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Autores principales: Sable, Craig A., Aliyu, Zakari Y., Dham, Niti, Nouraie, Mehdi, Sachdev, Vandana, Sidenko, Stanislav, Miasnikova, Galina Y., Polyakova, Lydia A., Sergueeva, Adelina I., Okhotin, Daniel J., Bushuev, Vladimir, Remaley, Alan T., Niu, Xiaomei, Castro, Oswaldo L., Gladwin, Mark T., Kato, Gregory J., Prchal, Josef T., Gordeuk, Victor R.
Formato: Artigo
Lenguaje:Inglês
Publicado: Ferrata Storti Foundation 2012
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3269477/
https://ncbi.nlm.nih.gov/pubmed/21993671
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2011.051839
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