Article
Use of the single strand conformation polymorphism method for rapid screening for mutations in the low density lipoprotein receptor gene in patients with familial hypercholesterolemia: effect on plasma lipid levels of different classes of mutations.
Zeitschrift fur Gastroenterologie - 1 Jun 1996
Gudnason V, Day I N, Humphries S E
Abstract excerpt
The single strand conformational polymorphism (SSCP) method was used to screen patients with familial hypercholesterolemia (FH) for mutations in the 3' part of exon 4 of the low density lipoprotein receptor (LDLR) gene. In 311 patients, six previously described mutations were identified in 29 app...
Topics
- Adult
- Cholesterol
- Cholesterol, LDL
- DNA Mutational Analysis
- DNA, Single-Stranded
- Exons
- Female
- Genetic Carrier Screening
- Genetic Testing
- Genotype
- Humans
- Hyperlipoproteinemia Type II
- Male
- Middle Aged
- Phenotype
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Protein Conformation