Article
Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis.
Human molecular genetics - 1 Nov 1997
Jones A C, Daniells C E, Snell R G, Tachataki M, Idziaszczyk S A, Krawczak M, Sampson J R, Cheadle J P
Abstract excerpt
Tuberous sclerosis (TSC) is an autosomal dominant disorder characterised by the development of hamartomatous growths in many organs. Sixty to seventy percent of cases are sporadic and appear to represent new mutations. TSC exhibits locus heterogeneity: the TSC2 gene is located at 16p13.3 whilst t...
Topics
- Humans
- Intellectual Disability
- Mutation
- Phenotype
- Proteins
- Repressor Proteins
- Tuberous Sclerosis
- Tuberous Sclerosis Complex 1 Protein
- Tuberous Sclerosis Complex 2 Protein
- Tumor Suppressor Proteins