Article
A mutation screen of the TSC1 gene reveals 26 protein truncating mutations and 1 splice site mutation in a panel of 79 tuberous sclerosis patients.
Annals of human genetics - 1 May 1998
Young J M, Burley M W, Jeremiah S J, Jeganathan D, Ekong R, Osborne J P, Povey S
Abstract excerpt
The entire coding region of the TSC1 gene has been screened for mutations in 79 unrelated patients with tuberous sclerosis. Causative mutations have been found in 27 of these patients and five other variations in the gene have been identified. 26 of the mutations are predicted to cause premature...
Topics
- Blotting, Southern
- Chromosomes, Human, Pair 9
- Female
- Gene Rearrangement
- Haplotypes
- Humans
- Male
- Mutation
- Nucleic Acid Heteroduplexes
- Pedigree
- Polymorphism, Single-Stranded Conformational
- Proteins
- RNA Splicing
- Tuberous Sclerosis
- Tuberous Sclerosis Complex 1 Protein
- Tumor Suppressor Proteins