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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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Detalles Bibliográficos
Autores principales:	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
Formato:	Texto
Lenguaje:	English
Publicado:	Society for Endocrinology 2011
Materias:	Regular Papers
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3006001/ https://www.ncbi.nlm.nih.gov/pubmed/20959442 http://dx.doi.org/10.1677/ERC-10-0113

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