A de novo frame-shift mutation in the tuberin gene

Hum Mol Genet. 1995 Aug;4(8):1471-2. doi: 10.1093/hmg/4.8.1471.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alleles
  • Base Sequence
  • Child, Preschool
  • DNA / genetics
  • Female
  • Frameshift Mutation*
  • Humans
  • Molecular Sequence Data
  • Pedigree
  • Repressor Proteins / genetics*
  • Tuberous Sclerosis / genetics*
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Suppressor Proteins

Substances

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