Article
Neurofibromin in neurofibromatosis type 1 - mutations in NF1gene as a cause of disease.
Developmental period medicine - 1 Jan 2000
Abramowicz Anna, Gos Monika
Abstract excerpt
Neurofibromatosis type I (NF1) is a disease associated with the presence of benign neurofibromas and malignant tumours of the central and peripheral nervous system, that are accompanied by characteristic changes in the skin, such as café-au-lait spots or axillary freckling. In 50% of NF1 patients, the clinical symptoms become apparent below 1st year and in 97%, before the age of 8 years. The disease is mainly...
Topics
- Cafe-au-Lait Spots
- Gene Deletion
- Humans
- Mitogen-Activated Protein Kinases
- Mutation
- Neurofibromatosis 1
- Neurofibromin 1
- Point Mutation
- Signal Transduction
- ras Proteins