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

doi:10.1016/0021-9150(93)90171-p

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Article

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

Atherosclerosis - 1 Dec 1993

Myant N B

Abstract excerpt

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...

Topics

Apolipoprotein B-100
Apolipoproteins B
Cholesterol
Coronary Disease
Diagnosis, Differential
Heterozygote
Humans
Hyperlipoproteinemia Type II
Mutation
Pedigree
Risk Factors

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