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A single amino acid substitution (gly743 --> val) in the steroid-binding domain of the human androgen receptor leads to Reifenstein syndrome.
J Clin Endocrinol Metab. 1993 Jul;77(1):103-7. doi: 10.1210/jcem.77.1.8325932.
J Clin Endocrinol Metab. 1993.
PMID: 8325932
Complete androgen insensitivity syndrome associated with a de novo mutation of the androgen receptor gene detected by single strand conformation polymorphism.
Lobaccaro JM, Lumbroso S, Berta P, Chaussain JL, Sultan C.
Lobaccaro JM, et al.
J Steroid Biochem Mol Biol. 1993 Mar;44(3):211-6. doi: 10.1016/0960-0760(93)90081-7.
J Steroid Biochem Mol Biol. 1993.
PMID: 8096390
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