Article
Mutational analysis of patients with neurofibromatosis 2.
American journal of human genetics - 1 Aug 1994
MacCollin M, Ramesh V, Jacoby L B, Louis D N, Rubio M P, Pulaski K, Trofatter J A, Short M P, Bove C, Eldridge R
Abstract excerpt
Neurofibromatosis 2 (NF2) is a genetic disorder characterized by the development of multiple nervous-system tumors in young adulthood. The NF2 gene has recently been isolated and found to encode a new member of the protein 4.1 family of cytoskeletal associated proteins, which we have named merlin...
Topics
- Base Sequence
- DNA Mutational Analysis
- DNA, Single-Stranded
- Female
- Frameshift Mutation
- Genes, Neurofibromatosis 2
- Germ-Line Mutation
- Humans
- Male
- Membrane Proteins
- Molecular Sequence Data
- Mutation
- Neoplasm Proteins
- Neurofibromatosis 2
- Neurofibromin 2