Article
Identification of the 408 valine to methionine mutation in the low density lipoprotein receptor in a German family with familial hypercholesterolemia.
Human genetics - 1 Apr 1993
Schuster H, Fischer H J, Keller C, Wolfram G, Zöllner N
Abstract excerpt
Familial hypercholesterolemia (FH) is caused by different mutations in the gene encoding the low density lipoprotein receptor (LDLR). In Caucasian patients, at least three single point mutations have been identified causing FH. The asparagine206 to glutamine, and valine408 to methionine mutations...
Topics
- Adolescent
- Adult
- Aged
- DNA Mutational Analysis
- Female
- Germany
- Humans
- Hyperlipoproteinemia Type II
- Lipoproteins
- Male
- Methionine
- Middle Aged
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Receptors, LDL
- Valine