Dominant transmission of insulin resistance in a type A family resulting from a heterozygous nonsense mutation in the insulin receptor gene and associated with decreased mRNA level and insulin binding sites

Diabetes. 1997 Nov;46(11):1901-3. doi: 10.2337/diab.46.11.1901.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Amino Acid Sequence
  • Base Sequence
  • Binding Sites
  • Child
  • Exons
  • Family
  • Female
  • Gene Expression Regulation*
  • Genes, Dominant
  • Genetic Carrier Screening
  • Genomic Imprinting
  • Humans
  • Insulin / metabolism*
  • Insulin Resistance / genetics*
  • Male
  • Nuclear Family
  • Pedigree
  • Point Mutation*
  • Polymerase Chain Reaction
  • RNA, Messenger / metabolism
  • Receptor, Insulin / genetics*
  • Receptor, Insulin / metabolism

Substances

  • Insulin
  • RNA, Messenger
  • Receptor, Insulin