A family with isolated hyperparathyroidism segregating a missense MEN1 mutation and showing loss of the wild-type alleles in the parathyroid tumors

Am J Hum Genet. 1998 Nov;63(5):1544-9. doi: 10.1086/302097.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Amino Acid Substitution
  • Calcium / blood
  • Child
  • Chromosome Mapping
  • Chromosomes, Human, Pair 11*
  • Female
  • Genes, Dominant
  • Humans
  • Hyperparathyroidism / genetics*
  • Hyperparathyroidism / surgery
  • Loss of Heterozygosity*
  • Male
  • Middle Aged
  • Mutation, Missense*
  • Neoplasm Proteins / genetics*
  • Parathyroid Neoplasms / genetics*
  • Parathyroid Neoplasms / surgery
  • Pedigree
  • Proto-Oncogene Proteins*

Substances

  • MEN1 protein, human
  • Neoplasm Proteins
  • Proto-Oncogene Proteins
  • Calcium