Article
Identification of the serine-156 to leucine mutation in the low-density lipoprotein receptor in a German family with familial hypercholesterolemia.
The Clinical investigator - 1 Feb 1993
Schuster H, Ostwald P, Keller P, Wolfram G, Keller C
Abstract excerpt
Familial hypercholesterolemia is caused by various mutations in the gene encoding the low-density lipoprotein receptor. To date more than 100 mutations have been identified, including insertions and deletions as well as single base changes. In the German population haplotype analysis using four r...
Topics
- Adult
- Alleles
- Base Sequence
- Child, Preschool
- DNA Mutational Analysis
- Female
- Genes, Dominant
- Haplotypes
- Humans
- Hyperlipoproteinemia Type II
- Incidence
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymorphism, Restriction Fragment Length
- Receptors, LDL