Novel mutation in the ligand-binding domain of the androgen receptor gene (1790p) associated with complete androgen insensitivity syndrome
β Scribed by Florina Raicu; Rossella Giuliani; Valentina Gatta; Chiara Palka; Paolo Guanciali Franchi; Pierluigi Lelli-Chiesa; Stefano Tumini; Liborio Stuppia
- Book ID
- 111357501
- Publisher
- Nature Publishing Group
- Year
- 2008
- Tongue
- English
- Weight
- 361 KB
- Volume
- 10
- Category
- Article
- ISSN
- 1008-682X
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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
## Communicated by Stylianos E. Antonarakis fied by polymerase chain reaction (PCR) ace cording to Saiki et al. (1988) using the intronic primers of Lubahn et al. (1989). Routinely, 32 cycles were run in an Intelligent Heating Block (Biometra) after a first denaturation step for 5 min at 93Β°C, 60