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- W2418785168 abstract "The von Hippel-Lindau (VHL) disease is a multitumor syndrome characterized by CNS hemangioblastoma, pheochromocytoma and renal cell carcinoma. The VHL disease gene is a putative tumor suppressor gene responsible for VHL disease. VHL disease without pheochromocytoma (pheo) and those with pheo are classified as type 1 or type 2, respectively. Germline missense mutations are clustered in 4 regions in the VHL gene. The VHL protein is now regarded as a one of the key protein for ubiquitination and further degradation of certain transcription factors such as hypoxia inducible factor (HIF). Since almost of germline mutations are detectable, presymptomatic diagnosis of the VHL disease with DNA analyses is important to improve the prognosis of VHL disease." @default.
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- W2418785168 date "2008-10-16" @default.
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- W2418785168 title "Von Hippel-Lindau Disease" @default.
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- W2418785168 doi "https://doi.org/10.1007/978-3-540-47648-1_6217" @default.
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