Familial defective apolipoprotein B-100: a review, including some comparisons with familial hypercholesterolaemia

NB Myant - Atherosclerosis, 1993 - Elsevier
Familial defective apolipoprotein B-100 (FDB) is a dominantly inherited disorder caused by
the substitution of glutamine for arginine at position 3500 in apo B-100. The presence of
mutant apo B-100 in low-density lipoproteins (LDL) markedly reduces their affinity for the
LDL receptor, leading to hypercholesterolaemia and increased proneness to coronary artery
disease. In some FDB heterozygotes the clinical picture is indistinguishable from that in
heterozygous familial hypercholesterolaemia (FH). In European and N. American …