Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP)

J Med Genet. 2004 Mar;41(3):e32. doi: 10.1136/jmg.2003.012369.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Amino Acid Sequence
  • Child
  • DNA Mutational Analysis
  • Female
  • France
  • Genes, Tumor Suppressor*
  • Germ-Line Mutation / genetics*
  • Humans
  • Hyperparathyroidism / genetics*
  • Male
  • Middle Aged
  • Mosaicism / genetics
  • Mutation / genetics*
  • Pedigree
  • Proteins / chemistry
  • Proteins / genetics*
  • Proto-Oncogene Proteins / genetics
  • Receptors, Calcium-Sensing / genetics
  • Tumor Suppressor Proteins

Substances

  • CASR protein, human
  • CDC73 protein, human
  • MEN1 protein, human
  • Proteins
  • Proto-Oncogene Proteins
  • Receptors, Calcium-Sensing
  • Tumor Suppressor Proteins