Article
Two mutations in the same low-density lipoprotein receptor allele act in synergy to reduce receptor function in heterozygous familial hypercholesterolemia.
Human mutation - 1 Jan 1997
Jensen H K, Jensen T G, Faergeman O, Jensen L G, Andresen B S, Corydon M J, Andreasen P H, Hansen P S, Heath F, Bolund L, Gregersen N
Abstract excerpt
Mutations in genes are not necessarily pathogenic. Expression of mutant genes in cells can therefore be required to demonstrate that mutations in fact disturb protein function. This applies especially to missense mutations, which cause an amino acid to be replaced by another amino acid. In the present study of two families with familial hypercholesterolemia in the heterozygous form, we found two mutations in the...
Topics
- Alleles
- Animals
- COS Cells
- Female
- Heterozygote
- Humans
- Hyperlipoproteinemia Type II
- Male
- Mutagenesis, Site-Directed
- Mutation
- Pedigree