Article
Identification of recurrent and novel mutations in exon 4 of the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom.
Arteriosclerosis and thrombosis : a journal of vascular biology - 1 Jan 1993
Gudnason V, King-Underwood L, Seed M, Sun X M, Soutar A K, Humphries S E
Abstract excerpt
A group of 200 patients with familial hypercholesterolemia (FH) who were attending lipid clinics in the London area have been screened for four known point mutations and a microdeletion in exon 4 of the low density lipoprotein receptor gene by polymerase chain reaction (PCR) amplification of geno...
Topics
- Alleles
- Base Sequence
- Exons
- Gene Deletion
- Genes
- Haplotypes
- Humans
- Hyperlipoproteinemia Type II
- Lipoproteins, LDL
- Molecular Sequence Data
- Mutation
- Oligonucleotide Probes
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length