Article
A novel mutation in Exon 4 of the low density lipoprotein receptor gene resulting in heterozygous familial hypercholesterolemia associated with decreased ligand binding.
Atherosclerosis - 1 Jan 1998
Morash B A, Tan M H, Nassar B A, Too C K, Guernsey D L
Abstract excerpt
Familial hypercholesterolemia (FH) is an autosomal dominant disorder caused by mutations in the low density lipoprotein (LDL) receptor gene. Currently, diagnosis of heterozygous FH relies on clinical phenotype; however, the use of clinical criteria for the diagnosis of heterozygous FH does not al...
Topics
- Adult
- Aged
- Codon
- DNA
- Exons
- Female
- Heterozygote
- Humans
- Hyperlipoproteinemia Type II
- Ligands
- Lipoproteins, LDL
- Male
- Middle Aged
- Mutation
- Pedigree
- Receptors, LDL
- Restriction Mapping
- Sequence Analysis, DNA