Article
Lipoprotein lipase deficiency due to a 3' splice site mutation in intron 6 of the lipoprotein lipase gene.
Journal of lipid research - 1 Dec 1994
Hölzl B, Huber R, Paulweber B, Patsch J R, Sandhofer F
Abstract excerpt
In a patient with primary hyperchylomicronemia as a result of lipoprotein lipase (LPL) deficiency, we sequenced all translated exons and intron-exon boundaries of the LPL gene. We found a C-->A mutation in position -3 at the acceptor splice site of intron 6 which caused aberrant splicing. The major transcript showed a deletion of exons 6 through 9 and amounted to about 3% of the normal transcript of a healthy...
Topics
- Alleles
- Austria
- Base Sequence
- Exons
- Heterozygote
- Homozygote
- Humans
- Hyperlipoproteinemia Type I
- Introns
- Lipoprotein Lipase
- Molecular Sequence Data
- Mutation