Article
Deletions of the low density lipoprotein receptor gene underlying familial hypercholesterolaemia: screening by polymerase chain reaction using pooled DNA and blood samples.
Molecular and cellular probes - 1 Feb 1997
Vuorio A F, Paulin L, Turtola H, Kontula K
Abstract excerpt
We evaluated the feasibility of methods based on the polymerase chain reaction (PCR) and non-automated or automated gel electrophoresis to detect clinically important DNA deletions in pooled DNA and blood samples. Two common low density lipoprotein (LDL) receptor mutations causing familial hyperc...
Topics
- Alleles
- DNA
- DNA Mutational Analysis
- Electrophoresis, Polyacrylamide Gel
- Exons
- Feasibility Studies
- Gene Deletion
- Heterozygote
- Humans
- Hyperlipoproteinemia Type II
- Mass Screening
- Polymerase Chain Reaction
- Receptors, LDL