TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/TSC2 frequency ratios

@article{Langkau2001TSC1AT,
  title={TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/TSC2 frequency ratios},
  author={Nicola Langkau and Nicola C Martin and Regine Brandt and Karin Z{\"u}gge and Stefanie Quast and Gerd Wiegele and Anna Jauch and Marion Rehm and Andrea Kuhl and Monika Mack-Vetter and Lothar Bernd Zimmerhackl and Bart Janssen},
  journal={European Journal of Pediatrics},
  year={2001},
  volume={161},
  pages={393-402}
}
Tuberous sclerosis (TSC) is a multisystem disease with manifestations in the central nervous system, skin, kidneys, heart, and other visceral organs. The development of TSC is associated with alterations within a gene on chromosome 9q34 (TSC1) and a gene on chromosome 16p13 (TSC2). Most de-novo patients show a mutation in TSC2, whereas only 50% of all familial cases can be related to TSC2 mutations. In the present study, 68 unrelated patients with confirmed clinical manifestations of TSC were… CONTINUE READING

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Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients.

American journal of human genetics • 1998
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