Molecular genetic advances in tuberous sclerosis (original) (raw)

Abstract.

Over the past decade, there has been considerable progress in understanding the molecular genetics of tuberous sclerosis, a disorder characterised by hamartomatous growths in numerous organs. We review this progress, from cloning and characterising TSC1 and TSC2, the genes responsible for the disorder, through to gaining insights into the functions of their protein products hamartin and tuberin, and the identification and engineering of animal models. We also present the first comprehensive compilation and analysis of all reported TSC1 and TSC2 mutations, consider their diagnostic implications and review genotype/phenotype relationships.

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Authors and Affiliations

  1. Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, CF14 4XN, UK, UK
    Jeremy P. Cheadle & Julian R. Sampson
  2. Genetics Laboratory, Hematology Division, Brigham and Women's Hospital, Boston, MA 02115, USA, USA
    Mary Pat Reeve & David J. Kwiatkowski

Authors

  1. Jeremy P. Cheadle
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  2. Mary Pat Reeve
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  3. Julian R. Sampson
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  4. David J. Kwiatkowski
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Cheadle, J., Reeve, M., Sampson, J. et al. Molecular genetic advances in tuberous sclerosis.Hum Genet 107, 97–114 (2000). https://doi.org/10.1007/s004390000348

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