Conjunctival mucin deficiency in complete androgen insensitivity syndrome (CAIS)
β Scribed by Flavio Mantelli; Costanzo Moretti; Alessandra Micera; Stefano Bonini
- Publisher
- Springer-Verlag
- Year
- 2006
- Tongue
- English
- Weight
- 211 KB
- Volume
- 245
- Category
- Article
- ISSN
- 0065-6100
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π SIMILAR VOLUMES
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 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