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

@article{Ali1998MutationsIT,
  title={Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis.},
  author={J B Ali and Tiina Sepp and Susannah Ward and Andrew J. Green and John R. Yates},
  journal={Journal of medical genetics},
  year={1998},
  volume={35 12},
  pages={969-72}
}
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 (TSC2). The recently cloned TSC1 gene has 23 exons spanning some 40 kb of genomic DNA with an 8.6 kb transcript. We now report the results of mutation screening by SSCP and heteroduplex analysis of… CONTINUE READING

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