Article
Molecular studies on primary lipoprotein lipase (LPL) deficiency. One base deletion (G916) in exon 5 of LPL gene causes no detectable LPL protein due to the absence of LPL mRNA transcript.
The Journal of clinical investigation - 1 Feb 1992
Takagi A, Ikeda Y, Tsutsumi Z, Shoji T, Yamamoto A
Abstract excerpt
We have systematically investigated a genetic defect resulting in a primary lipoprotein lipase (LPL) deficiency in a proband TN and his affected brother SN, both manifesting familial hyperchylomicronemia. Neither LPL activity nor immunoreactive LPL mass was detected in postheparin plasma from the...
Topics
- Adult
- Aged
- Base Sequence
- Chromosome Deletion
- Exons
- Female
- Humans
- Lipase
- Lipids
- Lipoprotein Lipase
- Macrophages
- Male
- Middle Aged