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An androgen receptor mutation in the direct vicinity of the proposed C-terminal alpha-helix of the ligand binding domain containing the AF-2 transcriptional activating function core is associated with complete androgen insensitivity.
Peters I, Weidemann W, Romalo G, Knorr D, Schweikert HU, Spindler KD. Peters I, et al. Among authors: schweikert hu. Mol Cell Endocrinol. 1999 Feb 25;148(1-2):47-53. doi: 10.1016/s0303-7207(98)00237-8. Mol Cell Endocrinol. 1999. PMID: 10221770
Decreased expression of IGF-II and its binding protein, IGF-binding protein-2, in genital skin fibroblasts of patients with complete androgen insensitivity syndrome compared with normally virilized males.
Elmlinger MW, Mayer I, Schnabel D, Schuett BS, Diesing D, Romalo G, Wollmann HA, Weidemann W, Spindler KD, Ranke MB, Schweikert HU. Elmlinger MW, et al. Among authors: schweikert hu. J Clin Endocrinol Metab. 2001 Oct;86(10):4741-6. doi: 10.1210/jcem.86.10.7883. J Clin Endocrinol Metab. 2001. PMID: 11600534
104 results