Article
The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland.
The Journal of clinical investigation - 1 Jul 1992
Koivisto U M, Turtola H, Aalto-Setälä K, Top B, Frants R R, Kovanen P T, Syvänen A C, Kontula K
Abstract excerpt
A mutation of the LDL receptor gene very common among Finnish patients with heterozygous familial hypercholesterolemia (FH) was identified. This mutation, designated as FH-North Karelia, deletes seven nucleotides from exon 6 of the LDL receptor gene, causes a translational frameshift, and is pred...
Topics
- Alleles
- Amino Acid Sequence
- Base Sequence
- Chromosome Deletion
- Exons
- Finland
- Humans
- Hyperlipoproteinemia Type II
- Lipids
- Molecular Sequence Data
- Mutation
- Phenotype
- RNA, Messenger
- Receptors, LDL