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The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia

16 May 2013

Abstract excerpt

PURPOSE: Familial hypercholesterolemia is a common Mendelian disorder associated with early-onset coronary heart disease that can be treated by cholesterol-lowering drugs. The majority of cases in the United Kingdom are currently without a molecular diagnosis, which is partly due to the cost and time associated with standard screening techniques. The main purpose of this study was to test the sensitivity and...

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PMID: 23680767
DOI: 10.1038/gim.2013.55

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