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A novel missense mutation in the amino-terminal domain of the human androgen receptor gene in a family with partial androgen insensitivity syndrome causes reduced efficiency of protein translation.
The role of the androgen receptor (AR) in male sexual differentiation is revealed in part by the analysis of naturally occurring mutations in families with androgen insensitivity syndrome (AIS). We have investigated a family with partial AIS affecting three generations and have identified a G to A s...
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| Udgivet i: | J Clin Invest |
|---|---|
| Main Authors: | , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
American Society for Clinical Investigation
1996
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC507569/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8823308/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI118930 |
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