Article
Isolation of allele-specific, receptor-binding-defective low density lipoproteins from familial defective apolipoprotein B-100 subjects.
Journal of lipid research - 1 Aug 1994
Arnold K S, Balestra M E, Krauss R M, Curtiss L K, Young S G, Innerarity T L
Abstract excerpt
Familial defective apolipoprotein B-100 (FDB) is a genetic disorder apparently caused by a single amino acid substitution (Arg3500-->Gln) that disrupts the binding of low density lipoproteins (LDL) to the LDL receptor. The plasma of FDB heterozygotes contains a mixture of normal LDL and LDL that...
Topics
- Alleles
- Antibodies, Monoclonal
- Apolipoproteins B
- Binding, Competitive
- Cells, Cultured
- Cholesterol
- Chromatography, Affinity
- Fibroblasts
- Genetic Testing
- Heterozygote
- Humans
- Lipoproteins, LDL
- Receptors, Lipoprotein
