Gene Locus : 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.626T>G\; p.(Leu209*) in a child leading to a typical clinical picture of FCS
| Title : Familial chylomicronemia syndrome: a novel mutation in the lipoprotein lipase gene - |
| Author(s) : Van Biervliet S , Vande Velde S , De Bruyne P , Callewaert B , Verloo P , De Bruyne R |
| Ref : Acta Gastroenterol Belg , 87 :326 , 2024 |
| PubMedID: 39210765 |
| Gene_locus related to this paper: human-LPL |