Article
Ten LDL receptor mutants explain one third of familial hypercholesterolemia in a German sample.
Arteriosclerosis, thrombosis, and vascular biology - 1 Dec 1995
Schuster H, Keller C, Wolfram G, Zöllner N
Abstract excerpt
Mutational defects in the LDL receptor are responsible for familial hypercholesterolemia (FH); thus far more than 150 mutations have been described. Nevertheless, systematic searches among the Germans have not been conducted. We used single-strand conformational polymorphism and polymerase chain...
Topics
- Adult
- Base Sequence
- Child
- Child, Preschool
- Female
- Germany
- Humans
- Hyperlipoproteinemia Type II
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational
- Receptors, LDL