Article
Pathophysiology of androgen insensitivity syndromes: molecular and structural approaches of natural and engineered androgen receptor mutations at amino acid 743.
The Journal of clinical endocrinology and metabolism - 1 Dec 2002
Poujol Nicolas, Lumbroso Serge, Térouanne Béatrice, Lobaccaro Jean-Marc A, Bourguet William, Sultan Charles
Abstract excerpt
To decipher the clues of genotype-phenotype mapping in androgen insensitivity syndromes (AIS), we integrated clinical, molecular, and structural data in an investigation into the characteristics of androgen receptor (AR) ligand binding and activation. We looked for residues substituted in AIS that are conserved among the different AR species but that diverge in the other steroid receptors, thus suggesting a role...
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