Article
Trp64----nonsense mutation in the lipoprotein lipase gene.
Journal of lipid research - 1 Jun 1992
Sprecher D L, Kobayashi J, Rymaszewski M, Goldberg I J, Harris B V, Bellet P S, Ameis D, Yunker R L, Black D M, Stein E A
Abstract excerpt
A lipoprotein lipase (LpL) gene defect has been identified, a G----A transition at nucleotide position 446 of exon 3, resulting in a premature termination codon (Trp----stop) at amino acid residue 64. This defect was identified in a Type I hyperlipoproteinemic subject with an amino acid residue 194 defect in the other allele. Plasma lipoprotein values as well as LpL mass and activity in postheparin plasma were...
Topics
- Amino Acid Sequence
- Base Sequence
- Female
- Heparin
- Humans
- Hyperlipoproteinemia Type I
- Lipoprotein Lipase
- Male
- Molecular Sequence Data
- Mutation
- Pedigree