Article
Germline mutations in the neurofibromatosis type 2 tumour suppressor gene.
Human molecular genetics - 1 May 1994
Bourn D, Carter S A, Mason S, Gareth D, Evans R, Strachan T
Abstract excerpt
The recent identification of the NF2 tumour suppressor gene has enabled large scale screening for pathological mutations in the gene. We have sought germline mutations in the NF2 gene by SSCP and heteroduplex analysis of cDNA and genomic DNA samples followed by cloning and sequencing of mutant al...
Topics
- Base Sequence
- DNA Mutational Analysis
- DNA, Single-Stranded
- Genes, Neurofibromatosis 2
- Humans
- Molecular Sequence Data
- Mutation
- Neurofibromatosis 2
- Nucleic Acid Hybridization
- Phenotype
- Point Mutation
- Polymorphism, Genetic
- Sequence Deletion