Article
Evaluation of running conditions for SSCP analysis: application of SSCP for detection of point mutations in the LDL receptor gene.
PCR methods and applications - 1 Dec 1993
Leren T P, Solberg K, Rødningen O K, Ose L, Tonstad S, Berg K
Abstract excerpt
We have performed analyses of single-strand conformation polymorphisms (SSCP) of the promoter region and the translated parts of the 18 exons of the low-density lipoprotein receptor (LDLR) gene. DNA from 20 unrelated familial hypercholesterolemia (FH) patients was studied. Four different running...
Topics
- Base Sequence
- DNA Primers
- Electrophoresis, Polyacrylamide Gel
- Genotype
- Humans
- Molecular Sequence Data
- Pilot Projects
- Point Mutation
- Polymorphism, Genetic
- Receptors, LDL
