Title : Response to drugs and diet in a compound heterozygote for familial hypercholesterolaemia.

Pub. Date : 1995 Dec

PMID : 8546515






1 Functional Relationships(s)
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1 A boy with a total plasma cholesterol concentration of 20.9 mmol/l which fell significantly with a low fat diet, cholestyramine and simvastatin, was shown to have two different mutations in the low density lipoprotein receptor gene, demonstrating that some patients with homozygous familial hypercholesterolaemia show a good lipid lowering response to treatment. Simvastatin low density lipoprotein receptor Homo sapiens