Article
Emerging LDL therapies: Using human genetics to discover new therapeutic targets for plasma lipids
26 Mar 2013
Abstract excerpt
In humans, genetic variation occurs through different types of alleles that vary in frequency and severity of effect. Mendelian mutations, such as those in the low-density lipoprotein (LDL) receptor (LDLR) that result in familial hypercholesterolemia, are rare and have powerful phenotypic effects. Conversely, alleles that are common in the population (such that homozygotes for the minor allele are present even in...
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