Article
Germ-line mutations in the von Hippel-Lindau tumor-suppressor gene are similar to somatic von Hippel-Lindau aberrations in sporadic renal cell carcinoma.
American journal of human genetics - 1 Dec 1994
Whaley J M, Naglich J, Gelbert L, Hsia Y E, Lamiell J M, Green J S, Collins D, Neumann H P, Laidlaw J, Li F P
Abstract excerpt
von Hippel-Lindau (VHL) disease is a hereditary tumor syndrome predisposing to multifocal bilateral renal cell carcinomas (RCCs), pheochromocytomas, and pancreatic tumors, as well as angiomas and hemangioblastomas of the CNS. A candidate gene for VHL was recently identified, which led to the isolation of a partial cDNA clone with extended open reading frame, without significant homology to known genes or obvious...
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