Combined familial hyperlipidemia with dysfunctional LDL clearance

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None (1964) THE INHERITANCE OF ESSENTIAL FAMILIAL HYPERCHOLESTEROLEMIA.

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Sato K et al. (2004) Soluble epoxide hydrolase variant (Glu287Arg) modifies plasma total cholesterol and triglyceride phenotype in familial hypercholesterolemia: intrafamilial association study in an eight-generation hyperlipidemic kindred.

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Lo JC et al. (2007) Lymphotoxin beta receptor-dependent control of lipid homeostasis.

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Defesche JC et al. (2008) Silent exonic mutations in the low-density lipoprotein receptor gene that cause familial hypercholesterolemia by affecting mRNA splicing.

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Kulseth MA et al. (2010) Analysis of LDLR mRNA in patients with familial hypercholesterolemia revealed a novel mutation in intron 14, which activates a cryptic splice site.

Do R et al. (2015) Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.