Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: A case-control study

Background Familial hypercholesterolaemia is a common autosomal-dominant disorder caused by mutations in three known genes. DNA-based cascade testing is recommended by UK guidelines to identify affected relatives; however, about 60% of patients are mutation-negative. We assessed the hypothesis that...

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Bibliographic Details
Main Authors: Talmud, P, Shah, S, Whittall, R, Futema, M, Howard, P, Cooper, J, Harrison, S, Li, K, Drenos, F, Karpe, F, W Neil, H, Descamps, O, Langenberg, C, Lench, N, Kivimaki, M, Whittaker, J, Hingorani, A, Kumari, M, Humphries, SE
Format: Journal article
Published: 2013