Article
Androgen insensitivity syndrome in the era of molecular genetics and the Internet: a point of view.
Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2000
Warne G L, Zajac J D, MacLean H E
Abstract excerpt
The era of molecular genetics has seen the discovery of a great deal of scientific information about the androgen receptor (AR) and about the many AR mutations that have been identified in patients with Androgen Insensitivity Syndrome (AIS). In families with well-characterised mutations, carriers can now be identified and prenatal testing can be offered. An unexpected finding is that an AR mutation also causes...
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