Structure-based analysis of five novel disease-causing mutations in 21-hydroxylase-deficient patients.
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is the most frequent inborn error of metabolism, and accounts for 90-95% of CAH cases.The affected enzyme, P450C21, is encoded by the CYP21A2 gene, located together with a 98% nucleotide sequence identity CYP21A1P pseudogene, telemarkskongen flue on chromosome 6p21.3.Even though