Mutations of von Hippel-Lindau Tumor-Suppressor Gene and Congenital Polycythemia

The von Hippel-Lindau (pVHL) protein plays an important role in hypoxia sensing. It binds to the hydroxylated hypoxia-inducible factor 1α (HIF-1α) and serves as a recognition component of an E3-ubiquitin ligase complex. In hypoxia or secondary to a mutated VHL gene, the nondegraded HIF-1α forms a he...

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Bibliografski detalji
Glavni autori: Pastore, Yves, Jedlickova, Katerina, Guan, Yongli, Liu, Enli, Fahner, James, Hasle, Henrik, Prchal, Jaroslav F., Prchal, Josef T.
Format: Artigo
Jezik:Inglês
Izdano: The American Society of Human Genetics 2003
Teme:
Report
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1180379/
https://ncbi.nlm.nih.gov/pubmed/12844285
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