Article
Identification of two separate allelic mutations in the lipoprotein lipase gene of a patient with the familial hyperchylomicronemia syndrome.
The Journal of biological chemistry - 5 Jan 1991
Dichek H L, Fojo S S, Beg O U, Skarlatos S I, Brunzell J D, Cutler G B, Brewer H B
Abstract excerpt
The molecular defects resulting in a deficiency of lipoprotein lipase activity in a patient with the familial hyperchylomicronemia syndrome have been identified. Increased lipoprotein lipase mass but undetectable lipoprotein lipase activity in the patient's post-heparin plasma indicate the presen...
Topics
- Adult
- Alleles
- Amino Acid Sequence
- Base Sequence
- Exons
- Female
- Genes
- Genetic Vectors
- Humans
- Hyperlipoproteinemia Type I
- Introns
- Lipoprotein Lipase
- Macrophages
- Molecular Sequence Data
- Mutation
- Plasmids
- Polymerase Chain Reaction
- RNA