Article
A mutation in the neurofibromatosis type 2 tumor-suppressor gene, giving rise to widely different clinical phenotypes in two unrelated individuals.
American journal of human genetics - 1 Jul 1994
Bourn D, Carter S A, Evans D G, Goodship J, Coakham H, Strachan T
Abstract excerpt
We have sought mutations in the recently identified neurofibromatosis type 2 (NF2) tumor-suppressor gene in a large panel of NF2 patients, using PCR-based SSCP and heteroduplex analysis, followed by cloning and sequencing of appropriate PCR products. Two unrelated NF2 patients were found to have...
Topics
- Adolescent
- Adult
- Base Sequence
- DNA Mutational Analysis
- Dinucleoside Phosphates
- Genes, Neurofibromatosis 2
- Humans
- Male
- Molecular Sequence Data
- Mosaicism
- Neurofibromatosis 2
- Nucleic Acid Conformation
- Nucleic Acid Heteroduplexes
- Pedigree
- Phenotype
- Point Mutation