Article
Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations.
Journal of medical genetics - 1 Jun 1998
Evans D G, Trueman L, Wallace A, Collins S, Strachan T
Abstract excerpt
Blood samples from 125 unrelated families with classical type 2 neurofibromatosis (NF2) with bilateral vestibular schwannomas have been analysed for mutations in the NF2 gene. A further 17 families fulfilling modified criteria for NF2 have also been analysed. Causative mutations have been identif...
Topics
- Adult
- Age of Onset
- Alternative Splicing
- Brain Neoplasms
- DNA Transposable Elements
- Family
- Frameshift Mutation
- Genes, Neurofibromatosis 2
- Genotype
- Humans
- Mutation
- Neurofibromatosis 2
- Phenotype
- Point Mutation
- Sequence Deletion