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Humphries, S.E., Whittall, R.A., Hubbart, C.S., Maplebeck, S., Cooper, J.A., et al. (2006) Genetic Causes of Familial Hypercholesterolaemia in Patients in the UK: Relation to Plasma Lipid Levels and Coronary Heart Disease Risk. Journal of Medical Genetics, 43, 943-949.
http://dx.doi.org/10.1136/jmg.2006.038356

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