A novel mutation in Exon 4 of the low density lipoprotein receptor gene resulting in heterozygous familial hypercholesterolemia associated with decreased ligand binding.

Abstract excerpt

Familial hypercholesterolemia (FH) is an autosomal dominant disorder caused by mutations in the low density lipoprotein (LDL) receptor gene. Currently, diagnosis of heterozygous FH relies on clinical phenotype; however, the use of clinical criteria for the diagnosis of heterozygous FH does not always permit unequivocable diagnosis of the disease. Molecular diagnosis of FH is clinically valuable especially in...

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