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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Main Authors: 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
פורמט: Artigo
שפה:Inglês
יצא לאור: Society for Endocrinology 2011
נושאים:
Regular Papers
גישה מקוונת: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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