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 :
c.296T>C (p.Leu99Pro). Homozygous missense variant in a female infant presenting with extreme neonatal hypertriglyceridemia
| Title : Clinical and molecular characterization of 2 novel LPL variants in familial chylomicronemia syndrome - Agirbasli_2026_J.Clin.Lipidol__ |
| Author(s) : Agirbasli D , Karaoglan B , Ozalp NH , Kalayci A |
| Ref : J Clin Lipidol , : , 2026 |
| Abstract : |
| PubMedSearch : Agirbasli_2026_J.Clin.Lipidol__ |
| PubMedID: 42236341 |
| Gene_locus related to this paper: human-LPL |
| Title : Clinical and molecular characterization of 2 novel LPL variants in familial chylomicronemia syndrome - Agirbasli_2026_J.Clin.Lipidol__ |
| Author(s) : Agirbasli D , Karaoglan B , Ozalp NH , Kalayci A |
| Ref : J Clin Lipidol , : , 2026 |
| Abstract : |
| PubMedSearch : Agirbasli_2026_J.Clin.Lipidol__ |
| PubMedID: 42236341 |
| Gene_locus related to this paper: human-LPL |
| Title : Clinical and molecular characterization of 2 novel LPL variants in familial chylomicronemia syndrome - Agirbasli_2026_J.Clin.Lipidol__ |
| Author(s) : Agirbasli D , Karaoglan B , Ozalp NH , Kalayci A |
| Ref : J Clin Lipidol , : , 2026 |
| Abstract : |
| PubMedSearch : Agirbasli_2026_J.Clin.Lipidol__ |
| PubMedID: 42236341 |
| Gene_locus related to this paper: human-LPL |