Detailed functional studies on androgen receptor mild mutations demonstrate their association with male infertility
@article{Zuccarello2008DetailedFS, title={Detailed functional studies on androgen receptor mild mutations demonstrate their association with male infertility}, author={D. Zuccarello and A. Ferlin and C. Vinanzi and E. Prana and A. Garolla and L. Callewaert and F. Claessens and A. Brinkmann and C. Foresta}, journal={Clinical Endocrinology}, year={2008}, volume={68} }
Context Mutations in the androgen receptor (AR) gene can cause the androgen insensitivity syndrome (AIS). For complete and severe partial AIS, well‐characterized in vitro functional assays can be used for genotype–phenotype correlation; however, for mild forms of AIS, as associated with male infertility, experimental evidence is scarce or lacking. In particular, optimal in vitro functional tests informative about the genotype–phenotype relation have not been described.
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