Sequence of the Intron/Exon Junctions of the Coding Region of the Human Androgen Receptor Gene and Identification of a Point Mutation in a Family with Complete Androgen Insensitivity

November 2020 in “ UNC Libraries ”

D. B. Lubahn, T. R. Brown, J. A. Simental, H. N. Higgs, C. J. Migeon, E. M. Wilson, F. S. French

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androgen receptor AR gene complete androgen insensitivity syndrome intron/exon junctions point mutation dihydrotestosterone DHT valine methionine

Studysummary This study identified a mutation in the steroid-binding domain of the androgen receptor gene associated with complete androgen insensitivity syndrome, impairing male sexual development due to altered androgen receptor protein function.

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