Five novel androgen receptor gene mutations associated with complete androgen insensitivity syndrome.

Abstract excerpt

Mutations in the androgen receptor (AR) gene result in androgen insensitivity syndrome (AIS). We have identified five novel mutations that result in a complete loss in AR function and are associated with complete AIS. The mutations span all three AR major functional domains. In two cases, the loss of AR function could be explained on the basis of the current knowledge of AR molecular structure and function....

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