Article
Whole-exome sequencing in an extended family with myocardial infarction unmasks familial hypercholesterolemia.
BMC cardiovascular disorders - 26 Aug 2014
Brænne Ingrid, Reiz Benedikt, Medack Anja, Kleinecke Mariana, Fischer Marcus, Tuna Salih, Hengstenberg Christian, Deloukas Panos, Erdmann Jeanette, Schunkert Heribert
Abstract excerpt
BACKGROUND: Familial hypercholesterolemia (FH) is an autosomal-dominant disease leading to markedly elevated low-density lipoprotein (LDL) cholesterol levels and increased risk for premature myocardial infarction (MI). Mutation carriers display variable LDL cholesterol levels, which may obscure the diagnosis. We examined by whole-exome sequencing a family in which multiple myocardial infarctions occurred at a...
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