Article
Familial defective apolipoprotein B-100 is clinically indistinguishable from familial hypercholesterolemia.
Archives of internal medicine - 25 Oct 1993
Defesche J C, Pricker K L, Hayden M R, van der Ende B E, Kastelein J J
Abstract excerpt
BACKGROUND: Familial defective apolipoprotein B-100 is caused by a substitution of adenine for guanine in exon 26 of the gene coding for apolipoprotein B, which results in the substitution of glutamine for arginine in the putative low-density lipoprotein-receptor binding domain of the mature prot...
Topics
- Adult
- Aged
- Apolipoprotein B-100
- Apolipoproteins B
- Canada
- Cholesterol, LDL
- Coronary Disease
- Female
- Heterozygote
- Humans
- Hyperlipoproteinemia Type II
- Male
- Middle Aged
- Mutation
- Netherlands
- Polymerase Chain Reaction
