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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...
Tallennettuna:
Päätekijät: | , , , , , , |
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Aineistotyyppi: | Artigo |
Kieli: | Inglês |
Julkaistu: |
Ferrata Storti Foundation
2012
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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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