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More than 600 different, but rare, mutations in the low-density lipoprotein (LDL) receptor have been identified as the cause of familial hypercholesterolaemia. In contrast, only a single common amino acid-changing polymorphism (A370T) has been reported in this gene. The association of this polymorphism with variations in lipid levels is at present unclear.

european heart journal

Single nucleotide polymorphism in the low-density lipoprotein receptor is associated with a threefold risk of strokeA case-control and prospective study