Familial hypercholesterolemia was the first genetic disorder recognized to cause myocardial infarction. To this day, it remains the outstanding example of a single gene mutation that causes both hypercholesterolemia and coronary atherosclerosis. Above and beyond its traditional place among diseases of lipid metabolism, familial hypercholesterolemia has acquired importance as a prototype for a class of diseases that result from defects in the process of receptor-mediated endocytosis.
|Original language||English (US)|
|Number of pages||28|
|Journal||Medical Clinics of North America|
|Publication status||Published - 1982|
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