Article
Complete testicular feminization caused by an amino-terminal truncation of the androgen receptor with downstream initiation.
The Journal of clinical investigation - 1 Mar 1993
Zoppi S, Wilson C M, Harbison M D, Griffin J E, Wilson J D, McPhaul M J, Marcelli M
Abstract excerpt
We have characterized the molecular defect causing androgen resistance in two 46,XY siblings with complete testicular feminization. Although binding studies in genital skin fibroblasts showed a reduced Bmax, an increased dissociation rate of ligand, and an 8S peak of dihydrotestosterone binding on sucrose density gradient centrifugation, no immunoreactive androgen receptor (AR) was detected in immunoblots using...
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