Article
Lipoprotein lipase genotypes for a common premature termination codon mutation detected by PCR-mediated site-directed mutagenesis and restriction digestion.
Journal of lipid research - 1 Jun 1992
Stocks J, Thorn J A, Galton D J
Abstract excerpt
We have developed a procedure for the determination of a common mutation in exon 9 of the human lipoprotein lipase (LPL) gene. The mutation is due to a C-G transversion which creates a premature termination codon (Ser447-Ter) and results in a truncated LPL molecule lacking the C-terminal dipeptid...
Topics
- Adult
- Aged
- Alleles
- Base Sequence
- Codon
- Deoxyribonuclease HindIII
- Genotype
- Germ Cells
- Humans
- Hypertriglyceridemia
- Lipids
- Lipoprotein Lipase
- Lipoproteins, HDL
- Male
- Middle Aged
- Molecular Sequence Data
- Mutagenesis, Site-Directed
- Polymerase Chain Reaction