A novel splice site mutation (156 + 1G-->A) in the TSC2 gene

Hum Mutat. 1997;9(1):64-5. doi: 10.1002/(SICI)1098-1004(1997)9:1<64::AID-HUMU12>3.0.CO;2-N.
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

  • Adult
  • Humans
  • Male
  • Mutation*
  • RNA Splicing*
  • 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