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Yeast expression studies. cDNAs of the patient’s mutations were cloned into a yeast expression vector (pYES). Production of cholesterol from desmosterol was measured in yeast homogenates. pYES: empty vector control; DHCR24-WT: wild-type DHCR24 activity, set at 100%; DHCR24-R94K and DHCR24-E480K: patient’s mutations.
