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Clinical, Genetic and Functional Characteristics of Three Novel CYP17A1 Mutations Causing Combined 17α-Hydroxylase/17,20-Lyase Deficiency
Hormone Research, 03/18/2010
Rosa S et al. – The authors identified 2 patients with the phenotypical spectrum of P450c17 deficiency. Three novel mutations in the CYP17A1 gene were identified and their functional characterization provided a good phenotype–genotype correlation. The location of the mutated residues in the three–dimensional model of P450c17 gave some additional insights into its structure–function relationship.
