A novel point mutation (R840S) in the androgen receptor in a Brazilian family with partial androgen insensitivity syndrome
Mutations of the androgen receptor gene causing androgen insensitivity syndrome in 46, XY individuals, result in phenotypes ranging from complete female to ambiguous genitalia to males with minor degrees of undervirilization. We studied two Brazilian brothers with partial androgen insensitivity synd...
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| Main Authors: | , , , , , |
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| 格式: | Artigo |
| 语言: | 英语 |
| 出版: |
1999
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| 在线阅读: | https://doi.org/10.1002/(sici)1098-1004(199910)14:4<353::aid-humu16>3.0.co;2-7 https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/%28SICI%291098-1004%28199910%2914%3A4%3C353%3A%3AAID-HUMU16%3E3.0.CO%3B2-7 |
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