Identification of a mutant allele of the androgen receptor gene in a family with androgen insensitivity syndrome: detection of carriers and prenatal diagnosis
β Scribed by Giuseppina Fogu; Veronica Bertini; Salvatore Dessole; Pasquale Bandiera; PaolaMaria Campus; Giampiero Capobianco; Raimonda Sanna; Giovanna Soro; Andrea Montella
- Publisher
- Springer
- Year
- 2003
- Tongue
- English
- Weight
- 153 KB
- Volume
- 269
- Category
- Article
- ISSN
- 0003-9128
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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