In Support of Screens

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Familial hyper-cholesterolemia is a potentially fatal autosomal dominant disorder characterized by increased plasma levels of total cholesterol. Because screens for mutations in LDLR, APOB, and PCSK9 can be used to accurately diagnose FH, the UK's National Institute for Health and Clinical Excellence established guidelines for the 'cascade screening' of FH patients and their relatives in 2007. In a recent Clinical Genetics paper, the Great Ormond Street Hospital for Children's Alison Taylor et al.

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