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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;...
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 |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Society for Endocrinology
2011
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Materias: | |
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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