## 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
Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome
✍ Scribed by B. Chávez; J. P. Méndez; A. Ulloa-Aguirre; F. Larrea; F. Vilchis
- Publisher
- Nature Publishing Group
- Year
- 2001
- Tongue
- English
- Weight
- 340 KB
- Volume
- 46
- Category
- Article
- ISSN
- 1435-232X
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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
## 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 93°C, 60