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A mutation in the ligand binding domain of the androgen receptor of human INCaP cells affects steroid binding characteristics and response to anti-androgens

✍ Scribed by J. Veldscholte; C. Ris-Stalpers; G.G.J.M. Kuiper; G. Jenster; C. Berrevoets; E. Claassen; H.C.J. van Rooij; J. Trapman; A.O. Brinkmann; E. Mulder


Book ID
117054835
Publisher
Elsevier Science
Year
1990
Tongue
English
Weight
901 KB
Volume
173
Category
Article
ISSN
0006-291X

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Point mutation in the steroid-binding do
✍ Sibylle Jakubiczka; Edmond A. Werder; Peter Wieacker πŸ“‚ Article πŸ“… 1992 πŸ› Springer 🌐 English βš– 325 KB

An exonic single nucleotide substitution in the human androgen receptor gene (hAR) could be detected in an Italian family with two children affected by complete androgen insensitivity syndrome (CAIS), also called testicular feminization. This mutation leads to a guanine to adenine transition in exon