Article
Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype.
Human molecular genetics - 1 Aug 1994
Crossey P A, Richards F M, Foster K, Green J S, Prowse A, Latif F, Lerman M I, Zbar B, Affara N A, Ferguson-Smith M A
Abstract excerpt
Von Hippel-Lindau (VHL) disease is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign neoplasms, most frequently retinal, cerebellar and spinal haemangioblastoma, renal cell carcinoma, phaeochromocytoma and pancreatic tumours. We have previously dete...
Topics
- Base Sequence
- DNA
- Exons
- Genes, Tumor Suppressor
- Humans
- Molecular Sequence Data
- Mutation
- Phenotype
- Polymorphism, Single-Stranded Conformational
- von Hippel-Lindau Disease