Article
Compound heterozygosity for mutant hepatic lipase in familial hepatic lipase deficiency.
Biochemical and biophysical research communications - 30 Aug 1991
Hegele R A, Little J A, Connelly P W
Abstract excerpt
In a kindred with three hyperlipidemic subjects who had premature atherosclerosis and complete deficiency of hepatic lipase activity, we had previously identified a novel structural hepatic lipase gene variant. We now report the identification of three more hepatic lipase gene mutations in this family and demonstrate that compound heterozygosity for two hepatic lipase mutations (designated S267F and T383M)...
Topics
- Amino Acid Sequence
- Arteriosclerosis
- Base Sequence
- Codon
- DNA
- Exons
- Genetic Carrier Screening
- Genetic Variation
- Genotype
- Humans
- Hyperlipidemias
- Lipase