Article
Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1.
Human molecular genetics - 1 Aug 1998
Klose A, Ahmadian M R, Schuelke M, Scheffzek K, Hoffmeyer S, Gewies A, Schmitz F, Kaufmann D, Peters H, Wittinghofer A, Nürnberg P
Abstract excerpt
Neurofibromatosis type 1 (NF1) is a common familial tumour syndrome with multiple clinical features such as neurofibromas, café-au-lait spots (CLS), iris Lisch nodules, axillary freckling, optic glioma, specific bone lesions and an increased risk of malignant tumours. It is caused by a wide spect...
Topics
- Amino Acid Sequence
- Female
- GTPase-Activating Proteins
- Gene Expression Regulation
- Genome, Human
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Neurofibromatosis 1
- Neurofibromin 1
- Proteins
- Sequence Alignment
- ras GTPase-Activating Proteins