Abstract
Background and Aims: Familial hypercholesterolemia (FH) is the most common genetic disorder conferring an increased cardiovascular risk due to cholesterol accumulation since birth. FH patients have usually mutations in LDLR, APOB or PCSK9 genes, but in about 50% a variant causing disease is not identified. The 5' and 3’ untranslated regions (UTRs) and promoter of these genes is poorly studied. The aim of this project is to perform an in vitro characterization of variants in 5’ UTR and promoter of LDLR gene.
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