enzyme deficiency 20 article 14 priority journal 12 controlled study 10 human 10 Humans 6 Mutation 6 allele 6 nonhuman 6 17-alpha-Hydroxyprogesterone 4 Adrenal Hyperplasia, Congenital 4 Genotype 4 Heterozygote 4 Male 4 Point Mutation 4 Steroid 21-Hydroxylase 4 animal cell 4 blood and hemopoietic system 4 clinical article 4 congenital adrenal hyperplasia 4 enzyme activity 4 gene frequency 4 gene mutation 4 human cell 4 hydroxyprogesterone 4 metabolism 4 mutation rate 4 point mutation 4 porphyria 4 porphyria cutanea tarda 4