The LDL receptor defect in familial hypercholesterolemia. Implications for pathogenesis and therapy

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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 languageEnglish (US)
Pages (from-to)335-362
Number of pages28
JournalMedical Clinics of North America
Issue number2
Publication statusPublished - 1982


ASJC Scopus subject areas

  • Medicine(all)

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