Article
A compound heterozygote for lipoprotein lipase deficiency, Val69-->Leu and Gly188-->Glu: correlation between in vitro LPL activity and clinical expression.
Journal of lipid research - 1 Mar 1994
Bruin T, Tuzgöl S, Mulder W J, van den Ende A E, Jansen H, Hayden M R, Kastelein J J
Abstract excerpt
We analyzed the molecular defects in the lipoprotein lipase gene of a patient with type I hyperlipidemia suffering from recurrent pancreatitis, indicative for lipoprotein lipase deficiency. Postheparin lipoprotein lipase activity in the patient was decreased by 70%. Direct genomic sequencing reve...
Topics
- Adult
- Base Sequence
- Blotting, Southern
- DNA
- Glutamates
- Glutamic Acid
- Glycine
- Heterozygote
- Humans
- Leucine
- Lipoprotein Lipase
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- Valine