Article
Evaluation of a clinically applicable mutation screening technique for genetic diagnosis of familial hypercholesterolemia and familial defective apolipoprotein B.
Clinical genetics - 1 Jun 1998
Nissen H, Hansen A B, Guldberg P, Hansen T S, Petersen N E, Hørder M
Abstract excerpt
We have recently developed a simple mutation screening assay based on the denaturing gradient gel electrophoresis (DGGE) technique for detection of mutations in the coding and regulatory regions of the low density lipoprotein receptor (LDLR) gene and the codon 3500 region of the apolipoprotein (a...
Topics
- Animals
- Apolipoprotein B-100
- Apolipoproteins B
- Cricetinae
- Cricetulus
- Electrophoresis
- Evaluation Studies as Topic
- Exons
- Genetic Testing
- Humans
- Hyperlipoproteinemia Type II
- Mice
- Mutation
- Rats
- Receptors, LDL
- Xenopus laevis