Article
Occurrence of species of low-density lipoprotein with defective clearance in patients with primary moderate hypercholesterolaemia.
Journal of internal medicine - 1 Nov 1992
Vega G L, Grundy S M
Abstract excerpt
Recent studies have shown that one cause of primary moderate hypercholesterolaemia is familial defective apolipoprotein B-100 (FDB), a condition in which a mutation in apolipoprotein B-100 (apo B-100) causes low-density lipoproteins (LDL) to bind poorly to LDL receptors. One specific mutation, a glutamine-for-arginine transformation at position 3500 of apo B-100, has been reported to produce FDB. However, other...
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