"Overall the detection rate of CYP21A2 mutation was 97.9% which revealed 25 mutations and 36 genotypes. Four novel mutations (p.L199X p.E321del p.H393Q and p.L459-P464del) were detected and induced a significantly reduced 21-hydroxylase activity. The most common genotypes in Chinese population were I2G/I2G (12.5%) I2G/Large lesion (12.1%) I173N/I2G (10.3%) and I173N/Large lesion (9.2%)."xsd:string