Article
Replacement of arginine 773 by cysteine or histidine in the human androgen receptor causes complete androgen insensitivity with different receptor phenotypes.
American journal of human genetics - 1 Jul 1992
Prior L, Bordet S, Trifiro M A, Mhatre A, Kaufman M, Pinsky L, Wrogeman K, Belsham D D, Pereira F, Greenberg C
Abstract excerpt
We have discovered two different point mutations in a single codon of the X-linked androgen-receptor (AR) gene in two pairs of unrelated families who have complete androgen insensitivity (resistance) associated with different AR phenotypes in their genital skin fibroblasts. One mutation is a C-to-T transition at a CpG sequence near the 5' terminus of exon 6; it changes the sense of codon 773 from arginine to...
Topics
- Adolescent
- Arginine
- Base Sequence
- Canada
- Cysteine
- Deoxyribonucleases, Type II Site-Specific
- Disorders of Sex Development
- Female
- Histidine
- Humans