The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis.

@article{Maheshwar1997TheGD,
  title={The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis.},
  author={Magitha M. Maheshwar and Jeremy P. Cheadle and Alistair C. Jones and Jenny Myring and Allan E. Fryer and Peter C. Harris and Julian R. Sampson},
  journal={Human molecular genetics},
  year={1997},
  volume={6 11},
  pages={1991-6}
}
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 in patients with tuberous sclerosis and somatic loss of heterozygosity at the TSC2 locus in the associated hamartomas indicate that TSC2 functions as a tumour suppressor gene and that loss of function… CONTINUE READING
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