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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Detalhes bibliográficos
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
Formato: Artigo
Idioma:Inglês
Publicado em: Society for Endocrinology 2011
Assuntos:
Regular Papers
Acesso em linha: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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