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OCR: al are Genetic defects of LDL-cholesterol remo mately onerelatively common, occurring in approx mutationsin five hundred of the population. Man gene locus, have been described at the LDL-receptor amilial leading to the clinical manifestations of , when hypercholesterolaemia. These mutation oximately inherited from one parent, result in app activity, a fifty per cent reduction in LDL-receptor known as heterozygous familial hypercholesterolaemia.