A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex

J Med Genet. 2001 May;38(5):347-9. doi: 10.1136/jmg.38.5.347.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Exons / genetics
  • GTPase-Activating Proteins / chemistry*
  • Genes, Dominant / genetics
  • Humans
  • Mental Disorders / genetics
  • Mental Disorders / physiopathology
  • Mutation, Missense / genetics*
  • Polymorphism, Single-Stranded Conformational
  • Repressor Proteins / chemistry*
  • Repressor Proteins / genetics*
  • Sequence Homology
  • Tuberous Sclerosis / genetics*
  • Tuberous Sclerosis / physiopathology
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Suppressor Proteins

Substances

  • GTPase-Activating Proteins
  • Repressor Proteins
  • TSC2 protein, human
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Suppressor Proteins