Article
Functional characterisation of mutations in the ligand-binding domain of the androgen receptor gene in patients with androgen insensitivity syndrome.
Human genetics - 1 Oct 1998
Lundberg Giwercman Y, Nikoshkov A, Lindsten K, Byström B, Pousette A, Chibalin A V, Arvidsson S, Tiulpakov A, Semitcheva T V, Peterkova V, Hagenfeldt K, Ritzén E M, Wedell A
Abstract excerpt
Five mutations in the ligand-binding domain of the androgen receptor gene were identified in patients with complete (A765T, C784Y, R831X and M895T) or partial (R840G) androgen insensitivity. A765T and R831X have been reported previously whereas the other three mutations are novel. Receptors carry...
Topics
- Androgen-Insensitivity Syndrome
- Animals
- COS Cells
- Humans
- Ligands
- Male
- Mutation
- Protein Binding
- Receptors, Androgen
- Transcriptional Activation