Complete inactivation of the TSC2 gene leads to formation of hamartomas

Am J Hum Genet. 1999 Dec;65(6):1790-5. doi: 10.1086/302648.
No abstract available

Publication types

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

MeSH terms

  • Angiofibroma / genetics
  • Angiofibroma / pathology
  • Angiomyolipoma / genetics
  • Angiomyolipoma / pathology
  • Female
  • Genes, Tumor Suppressor / genetics
  • Germ-Line Mutation / genetics
  • Hamartoma / genetics*
  • Hamartoma / pathology*
  • Humans
  • Kidney Neoplasms / genetics
  • Kidney Neoplasms / pathology
  • Loss of Heterozygosity / genetics*
  • Male
  • Phenotype
  • Proteins / genetics
  • Repressor Proteins / genetics*
  • Sequence Deletion / genetics
  • TRPP Cation Channels
  • Tuberous Sclerosis / genetics*
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Suppressor Proteins

Substances

  • Proteins
  • Repressor Proteins
  • TRPP Cation Channels
  • TSC2 protein, human
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Suppressor Proteins
  • polycystic kidney disease 1 protein