Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene

J Med Genet. 2002 Jul;39(7):E38. doi: 10.1136/jmg.39.7.e38.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adrenal Gland Neoplasms / genetics
  • Adult
  • Child
  • Diagnosis, Differential
  • Female
  • Gene Deletion*
  • Genes, Tumor Suppressor*
  • Genetic Carrier Screening
  • Germ-Line Mutation / genetics*
  • Haplotypes / genetics
  • Humans
  • Ligases / genetics*
  • Male
  • Middle Aged
  • Phenotype
  • Pheochromocytoma / diagnosis
  • Pheochromocytoma / genetics
  • Poland
  • Tumor Suppressor Proteins*
  • Ubiquitin-Protein Ligases*
  • Von Hippel-Lindau Tumor Suppressor Protein
  • von Hippel-Lindau Disease / diagnosis*
  • von Hippel-Lindau Disease / genetics*

Substances

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