[LDL receptor gene analysis and phenotypic variation of familial hypercholesterolemia].

Abstract excerpt

Familial hypercholesterolemia, one of the most common single-gene disease in which defective catabolism of LDL is responsible for the increased plasma cholesterol and leads to the deposition of cholesterol in the arterial wall and premature coronary artery disease, is caused by inherited defects in the gene for the low density lipoprotein receptor. Clinical variation is known to exist in familial...

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