Article
Substitution of arginine-839 by cysteine or histidine in the androgen receptor causes different receptor phenotypes in cultured cells and coordinate degrees of clinical androgen resistance.
The Journal of clinical investigation - 1 Aug 1994
Beitel L K, Kazemi-Esfarjani P, Kaufman M, Lumbroso R, DiGeorge A M, Killinger D W, Trifiro M A, Pinsky L
Abstract excerpt
We aim to correlate point mutations in the androgen receptor gene with receptor phenotypes and with clinical phenotypes of androgen resistance. In two families, the external genitalia were predominantly female at birth, and sex-of-rearing has been female. Their androgen receptor mutation changed...
Topics
- Adult
- Amino Acid Sequence
- Androgens
- Base Sequence
- Cells, Cultured
- Drug Resistance
- Female
- Humans
- Molecular Sequence Data
- Phenotype
- Point Mutation
- Receptors, Androgen
- Structure-Activity Relationship
- Transfection