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Translational repression of HIF2α expression in mice with Chuvash polycythemia reverses polycythemia

Chuvash polycythemia is an inherited disease caused by a homozygous germline VHL(R200W) mutation, which leads to impaired degradation of HIF2α, elevated levels of serum erythropoietin, and erythrocytosis/polycythemia. This phenotype is recapitulated by a mouse model bearing a homozygous Vhl(R200W) m...

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Détails bibliographiques
Publié dans:J Clin Invest
Auteurs principaux: Ghosh, Manik C., Zhang, De-Liang, Ollivierre, Hayden, Eckhaus, Michael A., Rouault, Tracey A.
Format: Artigo
Langue:Inglês
Publié: American Society for Clinical Investigation 2018
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5873849/
https://ncbi.nlm.nih.gov/pubmed/29480820
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI97684
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