Article
The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis.
Human molecular genetics - 1 Oct 1997
Maheshwar M M, Cheadle J P, Jones A C, Myring J, Fryer A E, Harris P C, Sampson J R
Abstract excerpt
Tuberous sclerosis is an autosomal dominant trait in which the dysregulation of cellular proliferation and differentiation results in the development of hamartomatous growths in many organs. The TSC2 gene is one of two genes determining tuberous sclerosis. Inactivating germline mutations of TSC2...
Topics
- Amino Acid Sequence
- Animals
- Female
- GTP-Binding Proteins
- GTPase-Activating Proteins
- Humans
- Male
- Mice
- Molecular Sequence Data
- Mutation
- Pedigree
- Phenotype
- Proteins
- Rats
- Repressor Proteins
- Sequence Homology, Amino Acid
- Tuberous Sclerosis
- Tuberous Sclerosis Complex 2 Protein