Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: Correlations with phenotype

Chen, Fan; Kishida, Takeshi; Yao, Masahiro; P. Hustad, Thomas; Glavač, Damjan; Dean, Michael; R. Gnarra, James; Lou Orcutt, Mary; Mei Duh, Fuh; Glenn, G.M.; Green, Jane; Edward Hsia, Y.; M. Lamiell, James; Li, Hua; Wei, Ming; S. Schmidt, Laura; Tory, Kálmán; Kuzmin, Igor; Stackhouse, Tom; Latif, Farida; Marston Linehan, W.; I. Lerman, Michael; Zbar, Berton

doi:10.1002/humu.1380050109

Public

Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: Correlations with phenotype

Published in Human Mutation • Jan 1, 1995

Authors:

Fan Chen

Takeshi Kishida

Masahiro Yao

Abstract

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 cD...

Subject

Von Hippel–Lindau disease

Biology

Pheochromocytoma

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