Novel WT1 exon 9 mutation (D396Y) in a patient with early onset Denys Drash syndrome

Hum Mutat. 2000 Apr;15(4):389. doi: 10.1002/(SICI)1098-1004(200004)15:4<389::AID-HUMU29>3.0.CO;2-E.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Substitution / genetics*
  • Aspartic Acid / genetics
  • Child, Preschool
  • DNA-Binding Proteins / genetics*
  • Exons / genetics*
  • Fatal Outcome
  • Genes, Wilms Tumor*
  • Humans
  • Infant, Newborn
  • Male
  • Mutation, Missense / genetics*
  • Syndrome
  • Transcription Factors / genetics*
  • Tyrosine / genetics
  • Urogenital Abnormalities / genetics*
  • WT1 Proteins

Substances

  • DNA-Binding Proteins
  • Transcription Factors
  • WT1 Proteins
  • Aspartic Acid
  • Tyrosine