The novel variant p.Ser465Leu in the PCSK9 gene does not account for the decreased LDLR activity in members of a FH family

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Romano, 2011, An improved method on stimulated T - lymphocytes to functionally characterize novel and known LDLR mutations, J Lipid Res, 2095, 10.1194/jlr.D017772

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Gentile, 2008, dense LDL particles and metabolic syndrome in a sample of middle - aged women Findings from Progetto, Small Clin Chim Acta, 388

Sun, 2005, Evidence for effect of mutant on apolipoprotein secretion as the cause of unusually severe dominant hypercholesterolaemia, Hum Mol Genet, 14, 10.1093/hmg/ddi128

Pullinger, 1999, The apolipoprotein mutation characteristics of subjects from kindreds, J Lipid Res, 24, 3531

Wang, 2012, Molecular characterization of proprotein convertase subtilisin / kexin type mediated degradation of the LDLR, J Lipid Res, 53

Romano, 2011, An improved method on stimulated T - lymphocytes to functionally characterize novel and known LDLR mutations, J Lipid Res, 2095, 10.1194/jlr.D017772

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Tibolla, 2011, Proprotein convertase subtilisin / kexin type from structure function relation to therapeutic inhibition, Nutr Metab Cardiovasc Dis, 21, 835, 10.1016/j.numecd.2011.06.002

Flanagan, 2010, Using SIFT and PolyPhen to predict loss - of - function and gain - of - function mutations Test, AM Genet Mol Biomarkers, 14, 533, 10.1089/gtmb.2010.0036

Wang, 2012, Molecular characterization of proprotein convertase subtilisin / kexin type mediated degradation of the LDLR, J Lipid Res, 53

Gentile, 2008, dense LDL particles and metabolic syndrome in a sample of middle - aged women Findings from Progetto, Small Clin Chim Acta, 388

Hopkins, 2011, DJ National lipid association expert panel on familial hypercholesterolemia Familial hypercholesterolemias prevalence genetics diagnosis and screening recommendations from the National lipid association expert panel on familial hypercholesterolemia, Clin, 9

Flanagan, 2010, Using SIFT and PolyPhen to predict loss - of - function and gain - of - function mutations Test, AM Genet Mol Biomarkers, 14, 533, 10.1089/gtmb.2010.0036