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Pathogenic mutations in SDR5C1 affect its dehydrogenase activity. The l-3-hydroxyacyl-CoA dehydrogenase activity of wild type (WT) and mutant SDR5C1 was measured with acetoacetyl-CoA as substrate and NADH as cofactor. An active-site mutant (K172A) was included as “dehydrogenase-dead” control. Means and SD of three independent experiments are shown (*** P < 0.001).
