Article
Human hepatic lipase mutations and polymorphisms.
Human mutation - 1 Jan 1992
Hegele R A, Tu L, Connelly P W
Abstract excerpt
Human hepatic lipase (HL) is a 477 residue glycoprotein that hydrolyzes triglycerides from plasma lipoproteins. Familial HL deficiency is a rare recessive disorder that is characterized by premature atherosclerosis and abnormal circulating lipoproteins. While studying the HL gene from the world's...
Topics
- Alleles
- Amino Acid Sequence
- Base Sequence
- DNA
- DNA Mutational Analysis
- Gene Frequency
- Genetic Variation
- Heterozygote
- Homozygote
- Humans
- Hyperlipoproteinemia Type III
- Lipase
- Liver
- Molecular Sequence Data
- Polymorphism, Genetic