Article
Familial ligand-defective apolipoprotein B. Identification of a new mutation that decreases LDL receptor binding affinity.
The Journal of clinical investigation - 1 Mar 1995
Pullinger C R, Hennessy L K, Chatterton J E, Liu W, Love J A, Mendel C M, Frost P H, Malloy M J, Schumaker V N, Kane J P
Abstract excerpt
Detection of new ligand-defective mutations of apolipoprotein B (apoB) will enable identification of sequences involved in binding to the LDL receptor. Genomic DNA from patients attending a lipid clinic was screened by single-strand conformation polymorphism analysis for novel mutations in the pu...
Topics
- Adult
- Amino Acid Sequence
- Apolipoproteins B
- Arginine
- Arteriosclerosis
- Base Sequence
- Cholesterol
- Female
- Genetic Markers
- Haplotypes
- Humans
- Hypercholesterolemia
- Indians, North American
- Male
- Molecular Sequence Data