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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Bibliografske podrobnosti
Main Authors: Karla Melo, Ana Cláudia Latronico, Elaine Maria Frade Costa, Ana Elisa C. Billerbeck, Berenice B. Mendonça, Ivo J.P. Arnhold
Format: Artigo
Jezik:angleščina
Izdano: 1999
Online dostop: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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