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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Bibliographic Details
Main Authors: Astuti, D, Ricketts, C, Chowdhury, R, McDonough, M, Gentle, D, Kirby, G, Schlisio, S, Kenchappa, R, Carter, B, Kaelin, W, Ratcliffe, P, Schofield, C, Latif, F, Maher, E
Format: Journal article
Language:English
Published: 2011