The heterozygote advantage of the Chuvash polycythemia VHL(R200W) mutation may be protection against anemia

The germ-line loss-of-function VHL(R200W) mutation is common in Chuvashia, Russia and occurs in other parts of the world. VHL(R200W) homozygotes have elevated hypoxia inducible factor (HIF)-1 and HIF-2 levels, increased hemoglobin concentration, propensity to thrombosis and early mortality. Because...

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Bibliografiset tiedot
Päätekijät: Miasnikova, Galina Y., Sergueeva, Adelina I., Nouraie, Mehdi, Niu, Xiaomei, Okhotin, Daniel J., Polyakova, Lydia A., Ganz, Tomas, Prchal, Josef T., Gordeuk, Victor R.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Ferrata Storti Foundation 2011
Aiheet:
Brief Reports
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC3166109/
https://ncbi.nlm.nih.gov/pubmed/21606165
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2011.045609
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