title: The LDL receptor locus and the genetics of familial hypercholesterolemia.
mesh_terms: D000483:Alleles; D002478:Cells, Cultured; D002784:Cholesterol / Q000378:metabolism*; D005787:Gene Frequency; D005799:Genes, Dominant; D006580:Genetic Carrier Screening; D005838:Genotype; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics* / Q000378:metabolism; D008077:Lipoproteins, LDL / Q000378:metabolism*; D009154:Mutation; D010641:Phenotype; D012867:Skin / Q000378:metabolism
chemical_list: D008077:Lipoproteins, LDL; D002784:Cholesterol