An exonic point mutation creates a MaeIII site in the androgen receptor gene of a family with complete androgen insensitivity syndrome

Hum Mol Genet. 1993 Jul;2(7):1041-3. doi: 10.1093/hmg/2.7.1041.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • DNA / genetics
  • Deoxyribonucleases, Type II Site-Specific
  • Drug Resistance / genetics
  • Exons
  • Female
  • Heterozygote
  • Homozygote
  • Humans
  • Infant, Newborn
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Point Mutation*
  • Polymorphism, Restriction Fragment Length
  • Receptors, Androgen / genetics*
  • Syndrome

Substances

  • Receptors, Androgen
  • DNA
  • endodeoxyribonuclease MaeIII
  • Deoxyribonucleases, Type II Site-Specific