A tuberous sclerosis patient with a large TSC2 and PKD1 gene deletion shows extrarenal signs of autosomal dominant polycystic kidney disease

Contrib Nephrol. 1997:122:91-5. doi: 10.1159/000059909.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Angiomyolipoma / diagnosis
  • Angiomyolipoma / genetics
  • Chromosomes, Human, Pair 16 / genetics
  • Genetic Markers / genetics
  • Humans
  • Kidney Failure, Chronic / etiology
  • Loss of Heterozygosity / genetics
  • Male
  • Mutation
  • Polycystic Kidney, Autosomal Dominant / complications
  • Polycystic Kidney, Autosomal Dominant / genetics*
  • Proteins / genetics*
  • Repressor Proteins / genetics*
  • Sequence Deletion / genetics
  • TRPP Cation Channels
  • Tuberous Sclerosis / complications
  • Tuberous Sclerosis / genetics*
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Suppressor Proteins

Substances

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