Two mutations causing complete androgen insensitivity: a frame-shift in the steroid binding domain and a Cys-->Phe substitution in the second zinc finger of the androgen receptor

Hum Mol Genet. 1994 Jul;3(7):1169-70. doi: 10.1093/hmg/3.7.1169.
No abstract available

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Androgen-Insensitivity Syndrome / genetics*
  • Base Sequence
  • Child
  • Diseases in Twins
  • Frameshift Mutation*
  • Humans
  • Male
  • Molecular Sequence Data
  • Point Mutation*
  • Receptors, Androgen / chemistry
  • Receptors, Androgen / genetics*
  • Sequence Deletion
  • Zinc Fingers / genetics*

Substances

  • Receptors, Androgen