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Novel mutation of the CYP17 gene in two unrelated patients with combined 17α-hydroxylase/17,20-lyase deficiency: Demonstration of absent enzyme activity by expressing the mutant CYP17 gene and by three-dimensional modeling

Cyp17 GeneCellular EnzymologyBiochemistryNatural SciencesGeneticsMutant Cyp17 GeneBiochemical GeneticsMolecular BiologyMolecular GeneticsGene ExpressionMedicineAbsent Enzyme Activity