Article
Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types.
Nature genetics - 1 Feb 1994
Bianchi A B, Hara T, Ramesh V, Gao J, Klein-Szanto A J, Morin F, Menon A G, Trofatter J A, Gusella J F, Seizinger B R
Abstract excerpt
The neurofibromatosis 2 gene (NF2) has recently been isolated and predicted to encode a novel protein related to the moesin-ezrin-radixin family of cytoskeleton-associated proteins. Here we describe a novel isoform of the NF2 transcript that shows differential tissue expression and encodes a modi...
Topics
- Alternative Splicing
- Amino Acid Sequence
- Base Sequence
- Breast Neoplasms
- Carcinoma
- DNA Mutational Analysis
- DNA, Neoplasm
- Genes, Neurofibromatosis 2
- Humans
- Melanoma
- Membrane Proteins
- Molecular Sequence Data
- Mutation
- Neoplasm Proteins
- Neoplasms
- Neurilemmoma
- Neurofibromin 2
- Protein Structure, Secondary