Identification of a novel mutation (c279delC) and a polymorphism (c291C>G) in the von Hippel-Lindau gene in Italian patients

Hum Mutat. 2000 Jun;15(6):582. doi: 10.1002/1098-1004(200006)15:6<582::AID-HUMU18>3.0.CO;2-P.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution / genetics*
  • Cysteine / genetics*
  • Genes, Tumor Suppressor / genetics*
  • Glycine / genetics*
  • Humans
  • Italy
  • Ligases*
  • Mutation / genetics*
  • Polymorphism, Genetic / genetics*
  • Proteins / genetics*
  • Tumor Suppressor Proteins*
  • Ubiquitin-Protein Ligases*
  • Von Hippel-Lindau Tumor Suppressor Protein
  • von Hippel-Lindau Disease / genetics*

Substances

  • Proteins
  • Tumor Suppressor Proteins
  • Ubiquitin-Protein Ligases
  • Von Hippel-Lindau Tumor Suppressor Protein
  • Ligases
  • VHL protein, human
  • Cysteine
  • Glycine