Article
Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe.
Human genetics - 1 Sept 1996
Glavac D, Neumann H P, Wittke C, Jaenig H, Masek O, Streicher T, Pausch F, Engelhardt D, Plate K H, Höfler H, Chen F, Zbar B, Brauch H
Abstract excerpt
von Hippel-Lindau (VHL) disease is a dominantly inherited familial cancer syndrome predisposing to retinal, cerebellar and spinal hemangioblastoma, renal cell carcinoma (RCC), pheochromocytoma and pancreatic tumors. Clinically two types of the disease can be distinguished: VHL type 1 (without phe...
Topics
- Base Sequence
- DNA Mutational Analysis
- DNA Primers
- Europe
- Female
- Genes, Tumor Suppressor
- Genetic Carrier Screening
- Genotype
- Germ-Line Mutation
- Humans
- Male
- Molecular Sequence Data
- Pedigree
- Phenotype
- von Hippel-Lindau Disease