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.
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 arg...
Gespeichert in:
| Veröffentlicht in: | J Clin Invest |
|---|---|
| Hauptverfasser: | , , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
American Society for Clinical Investigation
1994
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| Schlagworte: | |
| Online-Zugang: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC296129/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8040309/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI117368 |
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