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A naturally occurring mutation in the human androgen receptor of a subject with complete androgen insensitivity confers binding and transactivation by estradiol

✍ Scribed by Thomas W. Bonagura; Min Deng; Terry R. Brown


Book ID
116734064
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
758 KB
Volume
263
Category
Article
ISSN
0303-7207

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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