Mutation analysis of HIF prolyl hydroxylases (PHD/EGLN) in individuals with features of phaeochromocytoma and renal cell carcinoma susceptibility

Germline mutations in the von Hippel–Lindau disease (VHL) and succinate dehydrogenase subunit B (SDHB) genes can cause inherited phaeochromocytoma and/or renal cell carcinoma (RCC). Dysregulation of the hypoxia-inducible factor (HIF) transcription factors has been linked to VHL and SDHB-related RCC;...

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Autori principali: Astuti, Dewi, Ricketts, Christopher J, Chowdhury, Rasheduzzaman, McDonough, Michael A, Gentle, Dean, Kirby, Gail, Schlisio, Susanne, Kenchappa, Rajappa S, Carter, Bruce D, Kaelin, William G, Ratcliffe, Peter J, Schofield, Christopher J, Latif, Farida, Maher, Eamonn R
Natura: Artigo
Lingua:Inglês
Pubblicazione: Society for Endocrinology 2011
Soggetti:
Regular Papers
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3006001/
https://ncbi.nlm.nih.gov/pubmed/20959442
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1677/ERC-10-0113
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