Mutations in the androgen receptor (AR) gene result in androgen insensitivity syndrome (AIS). We have identified five novel mutations that result in a complete loss in AR function and are associated with complete AIS. The mutations span all three AR major functional domains. In two cases, the loss o
Familial complete androgen insensitivity syndrome with prostatic tissue and seminal vesicles
β Scribed by Kalpalata Tripathy; Kalyaniprava Gouda; Pramod Kumar Palai; Lucy Das
- Book ID
- 106081618
- Publisher
- Springer
- Year
- 2010
- Tongue
- English
- Weight
- 244 KB
- Volume
- 282
- Category
- Article
- ISSN
- 0003-9128
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## Communicated by Bruce Gottlieb We have identified androgen receptor (AR) gene mutations in eight Australian subjects with complete androgen insensitivity syndrome (AIS). Four individuals, from three families, have novel mutations that introduce premature termination codons. Two siblings have th
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