Gene Locus : human-LPL, human-LPL, human-LPL
Mode of mutation : Natural mutant
Disease : Hyperlipoproteinemia TypeI
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
Homozygous variant in intron 5 of the LPL gene: c.776-5C>G
| Title : Neonatal severe hypertriglyceridaemia: A novel lipoprotein lipase gene splicing variant - Kumar_2025_BMJ.Case.Rep_18_e268368 |
| Author(s) : Kumar PA , Prasath CH |
| Ref : BMJ Case Rep , 18 : , 2025 |
| Abstract : |
| PubMedSearch : Kumar_2025_BMJ.Case.Rep_18_e268368 |
| PubMedID: 41423290 |
| Gene_locus related to this paper: human-LPL |
| Title : Neonatal severe hypertriglyceridaemia: A novel lipoprotein lipase gene splicing variant - Kumar_2025_BMJ.Case.Rep_18_e268368 |
| Author(s) : Kumar PA , Prasath CH |
| Ref : BMJ Case Rep , 18 : , 2025 |
| Abstract : |
| PubMedSearch : Kumar_2025_BMJ.Case.Rep_18_e268368 |
| PubMedID: 41423290 |
| Gene_locus related to this paper: human-LPL |
| Title : Neonatal severe hypertriglyceridaemia: A novel lipoprotein lipase gene splicing variant - Kumar_2025_BMJ.Case.Rep_18_e268368 |
| Author(s) : Kumar PA , Prasath CH |
| Ref : BMJ Case Rep , 18 : , 2025 |
| Abstract : |
| PubMedSearch : Kumar_2025_BMJ.Case.Rep_18_e268368 |
| PubMedID: 41423290 |
| Gene_locus related to this paper: human-LPL |