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Isolated erythrocytosis: study of 67 patients and identification of three novel germ-line mutations in the prolyl hydroxylase domain protein 2 (PHD2) gene

The oxygen sensing pathway modulates erythropoietin expression. In normal cells, intracellular oxygen tensions are directly sensed by prolyl hydroxylase domain (PHD)-containing proteins. PHD2 isozyme has a key role in tagging hypoxia-inducible factor (HIF)-α subunits for polyubiquitination and prote...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Albiero, Elena, Ruggeri, Marco, Fortuna, Stefania, Finotto, Silvia, Bernardi, Martina, Madeo, Domenico, Rodeghiero, Francesco
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Ferrata Storti Foundation 2012
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC3248940/
https://ncbi.nlm.nih.gov/pubmed/21828119
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2010.039545
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