Publication | Closed Access

Molecular basis of apparent isolated 17,20-lyase deficiency: compound heterozygous mutations in the C-terminal region (Arg(496) → Cys, Gln(461) → Stop) actually cause combined 17α-hydroxylase/17,20-lyase deficiency

C-terminal RegionBiochemistryNatural SciencesGeneticsBiochemical GeneticsMolecular Biology17,20-Lyase DeficiencyMolecular GeneticsGenomics17α-Hydroxylase/17,20-lyase DeficiencyMedicine