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Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction

Brænne, Ingrid ; Kleinecke, Mariana ; Reiz, Benedikt ; Graf, Elisabeth ; Strom, Tim ; Wieland, Thomas ; Fischer, Marcus ; Kessler, Thorsten ; Hengstenberg, Christian ; Meitinger, Thomas ; Erdmann, Jeanette ; Schunkert, Heribert


Familial hypercholesterolemia (FH) is an oligogenic disorder characterized by markedly elevated low-density lipoprotein cholesterol (LDLC) levels. Variants in four genes have been reported to cause the classical autosomal-dominant form of the disease. FH is largely under-diagnosed in European countries. As FH increases the risk for coronary artery disease (CAD) and myocardial infarction (MI), it ...


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