Recurrent mutation 4882delTT in the GAP-related domain of the tuberous sclerosis TSC2 gene

Hum Mutat. 1998:Suppl 1:S85-7. doi: 10.1002/humu.1380110129.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Base Sequence
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Family Health
  • Female
  • GTPase-Activating Proteins
  • Humans
  • Male
  • Mutation
  • Pedigree
  • Polymorphism, Single-Stranded Conformational
  • Protein Structure, Tertiary
  • Proteins / genetics*
  • Repressor Proteins / chemistry
  • Repressor Proteins / genetics*
  • Sequence Deletion
  • Tuberous Sclerosis / genetics*
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Suppressor Proteins

Substances

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