Article
Mutation analysis of exon 3 of the LDL receptor gene in patients with severe hypercholesterolemia.
Clinical chemistry and laboratory medicine - 1 May 1998
Geisel J, Gielen J, Oette K, Herrmann W, Wielckens K
Abstract excerpt
Single-strand conformation polymorphism analysis was used to screen for mutations in exon 3 of the low density lipoprotein receptor gene in a group of 218 unrelated patients with severe hypercholesterolemia (low density lipoprotein cholesterol > 6.7 mmol/l) living in the Cologne area of Germany....
Topics
- Base Sequence
- DNA Mutational Analysis
- DNA Primers
- Exons
- Germany
- Humans
- Hypercholesterolemia
- Hyperlipoproteinemia Type II
- Mutation
- Point Mutation
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational
- Receptors, LDL
- Sequence Deletion