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Article

The complex molecular genetics of familial hypercholesterolaemia.

Nature reviews. Cardiology - 1 Jan 2019

Berberich Amanda J, Hegele Robert A

Abstract excerpt

Familial hypercholesterolaemia is the most commonly encountered genetic condition that predisposes individuals to premature cardiovascular disease. Nevertheless, most patients are undiagnosed, and treatment is often suboptimal even when the diagnosis seems certain. Advances in molecular technologies are reshaping our understanding of this condition, including revision upwards of the population prevalence....

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PMID: 29973710
DOI: 10.1038/s41569-018-0052-6

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