Article
Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype.
Human mutation - 1 Jan 1995
Chen F, Kishida T, Yao M, Hustad T, Glavac D, Dean M, Gnarra J R, Orcutt M L, Duh F M, Glenn G
Abstract excerpt
von Hippel-Lindau disease (VHL) is an inherited neoplastic disease characterized by a predisposition to develop retinal angiomas, central nervous system hemangioblastomas, renal cell carcinomas, pancreatic cysts, and pheochromocytomas. The VHL gene was recently isolated by positional cloning. The cDNA encodes 852 nucleotides in 3 exons. The VHL gene is unrelated to any known gene families. We identified germline...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.