Article
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.
Journal of internal medicine - 1 Jan 1995
Vuorio A F, Ojala J P, Sarna S, Turtola H, Tikkanen M J, Kontula K
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...
Topics
- Alleles
- Analysis of Variance
- Blotting, Southern
- DNA
- Deoxyribonucleases, Type II Site-Specific
- Heterozygote
- Humans
- Hyperlipoproteinemia Type II
- Lipids
- Lovastatin