Article
Apolipoprotein B gene mutations in Austrian subjects with heart disease and their kindred.
Arteriosclerosis and thrombosis : a journal of vascular biology - 1 Jan 2000
Friedl W, Ludwig E H, Balestra M E, Arnold K S, Paulweber B, Sandhofer F, McCarthy B J, Innerarity T L
Abstract excerpt
In a group of 110 subjects with severe coronary artery disease, two were heterozygous for the apolipoprotein (apo) B arginine3,500----glutamine mutation that characterizes familial defective apo B-100. Both affected subjects were moderately hypercholesterolemic, and their low density lipoproteins...
Topics
- Antibodies, Monoclonal
- Apolipoproteins B
- Austria
- Base Sequence
- Cells, Cultured
- Coronary Disease
- DNA
- Fibroblasts
- Haplotypes
- Humans
- Lipoproteins, LDL
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymorphism, Restriction Fragment Length
- Radioimmunoassay