Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis.

doi:10.1136/jmg.35.12.969

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Article

Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis.

Journal of medical genetics - 1 Dec 1998

Ali J B, Sepp T, Ward S, Green A J, Yates J R

Abstract excerpt

Tuberous sclerosis (TSC) is an autosomal dominant disorder characterised by tumour-like malformations (hamartomas) of the brain, skin, and other organs, often associated with seizures and learning disability. There is genetic heterogeneity with loci for TSC on chromosomes 9q34 (TSC1) and 16p13.3...

Topics

Genetic Linkage
Humans
Loss of Heterozygosity
Mutation
Polymorphism, Genetic
Proteins
Tuberous Sclerosis
Tuberous Sclerosis Complex 1 Protein
Tumor Suppressor Proteins

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