Article
Screening for germ-line mutations in the NF2 gene.
Genes, chromosomes & cancer - 1 Feb 1995
Mérel P, Hoang-Xuan K, Sanson M, Bijlsma E, Rouleau G, Laurent-Puig P, Pulst S, Baser M, Lenoir G, Sterkers J M
Abstract excerpt
Neurofibromatosis type 2 (NF2) is a monogenic dominantly inherited disease that predisposes to the development of tumors of the nervous system, particularly meningiomas and schwannomas. The gene which, when altered, causes NF2, is localized on chromosome 22 and has recently been identified. The N...
Topics
- Base Sequence
- DNA Mutational Analysis
- Electrophoresis, Polyacrylamide Gel
- Genes, Neurofibromatosis 2
- Genotype
- Germ-Line Mutation
- Humans
- Molecular Sequence Data
- Phenotype
- Point Mutation