Heterozygous familial hypercholesterolaemia: the influence of the mutation type of the low-density-lipoprotein receptor gene and PvuII polymorphism of the normal allele on serum lipid levels and response to lovastatin treatment.

Abstract excerpt

OBJECTIVES: To study whether (i) the low-density-lipoprotein (LDL)-receptor gene mutation type itself or (ii) the PvuII restriction-fragment-length polymorphism (RFLP) of the intact LDL-receptor gene affects serum lipid levels and their responses to lovastatin treatment in heterozygous familial hypercholesterolaemia (FH). DESIGN: Comparison of serum lipid levels in 149 heterozygous FH patients, including 79...

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