Mutations in LDLR gene are the major cause of Familial Hypercholesterolemia (FH) but there are several variants described whose pathogenicity is still unknown. To date 88 different mutations in LDLR have been identified in the Portuguese population most of them, although being present in other populations, don’t have functional studies reported. A previous work recently reported by our group investigated the pa...
Familial hypercholesterolemia (FH) is one of the most common diseases of lipid metabolism, has an autosomal dominant inheritance and was the first genetic disorder of lipid metabolism to be characterized molecularly. FH usually results from inherited defects in the low density lipoprotein receptor (LDLR) gene and is characterised by increased circulating low density lipoprotein (LDL) cholesterol that leads to l...
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