Article
Associations between VHL genotype and clinical phenotype in familial von Hippel-Lindau disease.
European journal of clinical investigation - 1 Jun 2007
Huang J S, Huang C J, Chen S K, Chien C C, Chen C W, Lin C M
Abstract excerpt
BACKGROUND: Von Hippel-Lindau (VHL) disease is an autosomal dominant hereditary disorder associated with tumours and cysts in the central nervous system (CNS) and other visceral organs. Germline mutations in the VHL gene on chromosome 3p25-26 are considered the cause of this disease. MATERIALS AND METHODS: We studied six patients with VHL disease and their relatives. Loss of heterozygosity (LOH) was determined by...
Topics
- Adult
- Case-Control Studies
- Female
- Genetic Carrier Screening
- Genetic Predisposition to Disease
- Humans
- Loss of Heterozygosity
- Male
- Middle Aged
- Mutation, Missense
- Pedigree
- Phenotype
- Polymerase Chain Reaction
- von Hippel-Lindau Disease