Normolipidemia and hypercholesterolemia in persons heterozygous for the same 1592+5G→A splice site mutation in the low-density lipoprotein receptor gene
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1034/j.1399-0004.1999.560506.x/fullpdf
Reference43 articles.
1. Mutations of low-density-lipoprotein-receptor gene, variation in plasma cholesterol, and expression of coronary heart disease in homozygous familial hypercholesterolemia;Moorjani;Lancet,1993
2. Phenotypic variation among familial hypercholesterolemics heterozygous for either one of two Afrikaner founder LDL receptor mutations;Kotze;Arterioscler Thromb,1993
3. The familial hypercholesterolaemia regression study group. Influence of genotype at the low-density lipoprotein (LDL) receptor gene locus on the clinical phenotype and response to lipid-lowering drug therapy in heterozygous familial hypercholesterolemia;Sun;Atherosclerosis,1998
4. LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis;Varret;Nucl Acids Res,1998
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