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pubmed-article:8521303pubmed:abstractTextVon Hippel-Lindau (VHL) disease is a familial cancer syndrome that has a dominant inherited pattern which predisposes affected individuals to a variety of tumours. The most frequent tumors are hemangioblastomas of the central nervous system and retina, renal cell carcinoma (RCC), and pheochromocytoma. The recent identification and characterization of the VHL gene on human chromosome 3p and mutational analyses confirms the VHL gene functions as a classical tumor suppressor. Not only are mutations in this gene responsible for the VHL syndrome, but mutations are also very frequent in sporadic RCC.lld:pubmed
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pubmed-article:8521303pubmed:articleTitleExpression of the Von Hippel-Lindau tumor suppressor gene, VHL, in human fetal kidney and during mouse embryogenesis.lld:pubmed
pubmed-article:8521303pubmed:affiliationDepartment of Cancer Biology, Cleveland Clinic Foundation, Ohio 44195, USA.lld:pubmed
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