Human androgen insensitivity due to point mutations encoding amino acid substitutions in the androgen receptor steroid-binding domain

Point mutation in the steroid-binding do

Point mutation in the steroid-binding domain of the androgen receptor gene in a family with complete androgen insensitivity syndrome (CAIS)

✍ 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