Three novel mutations in the Von Hippel-Lindau tumour suppressor gene in Italian patients

Hum Mutat. 1998:Suppl 1:S268-70. doi: 10.1002/humu.1380110185.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution
  • Base Sequence
  • Codon, Terminator / genetics
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Humans
  • Italy
  • Ligases*
  • Male
  • Mutation
  • Mutation, Missense
  • Point Mutation
  • Polymorphism, Single-Stranded Conformational
  • Proteins / genetics*
  • Sequence Deletion
  • Tumor Suppressor Proteins*
  • Ubiquitin-Protein Ligases*
  • Von Hippel-Lindau Tumor Suppressor Protein
  • von Hippel-Lindau Disease / genetics*
  • von Hippel-Lindau Disease / pathology

Substances

  • Codon, Terminator
  • Proteins
  • Tumor Suppressor Proteins
  • DNA
  • Ubiquitin-Protein Ligases
  • Von Hippel-Lindau Tumor Suppressor Protein
  • Ligases
  • VHL protein, human