Verleun-Mooijman, M.C.

androgen patient mutation family receptor reductase subject phenotype ar gene androgen insensitivity syndrome expression insensitivity analysis androgen receptor library erasmus mc protein binding phenotypic phenotypic variation androgen insensitivity wild-type study reductase 2 gene deficiency skin fibroblasts variation pubic hair level syndrome absence sibling sequence intron endocrinology activity hormone endocrinol serum control reductase 2 activity reductase 2 deficiency subject ii boehmer androgen receptor gene ar gene mutation wolffian pubic genitalia brinkmann stage splice ar protein primer transcript index subject erasmu table difference plasmid november probe isoform trapman j reaction shbg serum level genotype vs 114- kd isoform index rt-pcr downloaded library phosphorylation sequencing splice site fibroblast dna binding presence diagnosis position deletion