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Functional characterisation of mutations in the ligand-binding domain of the androgen receptor gene in patients with androgen insensitivity syndrome

✍ Scribed by Yvonne Lundberg Giwercman; Andrej Nikoshkov; Kristina Lindsten; Birgitta Byström; Å. Pousette; Alexander V. Chibalin; Sivonne Arvidsson; Anatoly Tiulpakov; Tatiana V. Semitcheva; Valentina Peterkova; Kerstin Hagenfeldt; E. Martin Ritzén; A. Wedell

Publisher
Springer
Year
1998
Tongue
English
Weight
67 KB
Volume
103
Category
Article
ISSN
0340-6717

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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