A novel point mutation (R840S) in the androgen receptor in a Brazilian family with partial androgen insensitivity syndrome

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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Hlavní autoři: Karla Melo, Ana Cláudia Latronico, Elaine Maria Frade Costa, Ana Elisa C. Billerbeck, Berenice B. Mendonça, Ivo J.P. Arnhold
Médium: Artigo
Jazyk:angličtina
Vydáno: 1999
On-line přístup: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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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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