Abstract
Background and Aims : Atherosclerotic cardiovascular disease is the main cause of mortality worldwide and is strongly influenced by plasma low-density lipoprotein cholesterol (LDL-C) levels. So far, only few genes with a strong causal relationship to plasma LDL-C levels have been identified. Here, we aimed to elucidate the genetic origin of an unexplained combined hypocholesterolemia inherited in four generations of a French family.
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