Article
Ile225Thr loop mutation in the lipoprotein lipase (LPL) gene is a de novo event.
American journal of medical genetics - 24 Jul 1998
Henderson H E, Bijvoet S M, Mannens M A, Bruin T, Erkelens D W, Hayden M R, Kastelein J J
Abstract excerpt
Mutations in the lipoprotein lipase (LPL) gene are the most important cause of familial chylomicronemia with over 70 mutations being recorded to date. Thus far de novo mutations have not been described. Here we report on the molecular analysis of the family of a patient previously reported to be...
Topics
- Adult
- Aged
- Amino Acid Substitution
- Apolipoproteins E
- Dinucleotide Repeats
- Exons
- Genotype
- Haplotypes
- Humans
- Hyperlipoproteinemia Type I
- Isoleucine
- Lipids
- Lipoprotein Lipase
- Male
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length