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GTG Mutation in the Start Codon of the Androgen Receptor Gene in a Family of Horses with 64,XY Disorder of Sex Development

✍ Scribed by Révay, T.; Villagómez, D.A.F.; Brewer, D.; Chenier, T.; King, W.A.


Book ID
118742662
Publisher
S. Karger AG
Year
2012
Tongue
English
Weight
579 KB
Volume
6
Category
Article
ISSN
1661-5425

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✍ Sibylle Jakubiczka; Edmond A. Werder; Peter Wieacker 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 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