Article
Characterization of six patients who are double heterozygotes for familial hypercholesterolemia and familial defective apo B-100.
Arteriosclerosis and thrombosis : a journal of vascular biology - 1 Jul 1993
Rubinsztein D C, Raal F J, Seftel H C, Pilcher G, Coetzee G A, van der Westhuyzen D R
Abstract excerpt
Familial defective apolipoprotein B-100 (FDB) and familial hypercholesterolemia (FH) are the common causes of monogenic primary hypercholesterolemia. An individual of mixed English and Afrikaner descent with both FDB and the FH Afrikaner-1 low-density lipoprotein receptor mutation was identified...
Topics
- Adolescent
- Adult
- Apolipoprotein B-100
- Apolipoproteins B
- Arteriosclerosis
- Child
- Cholesterol
- Cholesterol, LDL
- Coronary Disease
- Female
- Genotype
- Heterozygote
- Humans
- Hyperlipoproteinemia Type II
- Male
- Middle Aged
- Mutation