Article
Deficiency of cholesteryl ester transfer protein. Description of the molecular defect and the dissociation of cholesteryl ester and triglyceride transport in plasma.
Arteriosclerosis, thrombosis, and vascular biology - 1 Dec 1997
Ritsch A, Drexel H, Amann F W, Pfeifhofer C, Patsch J R
Abstract excerpt
A patient is described who exhibited, despite excessively high postprandial triglyceride levels, high levels of HDL cholesterol. Measurement of CETP activity and mass in the patient's plasma showed values of less than 5% and 2%, respectively, of a normolipidemic plasma pool. The CETP cDNA of the patient exhibited a mutation (T-->G), turning codon 57 (TAT) of exon 2 into a stop codon (TAG) and abolishing a, XcmI...
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