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.763_766delAGAG p.(Arg255Aspfs*8)
Title : Clinical characterization and mutation spectrum of patients with hypertriglyceridemia in a German outpatient clinic - Bardey_2024_J.Lipid.Res__100589 |
Author(s) : Bardey F , Rieck L , Spira D , Marz W , Binner P , Schwab S , Kleber ME , Danyel M , Barkowski R , Bobbert T , Spranger J , Steinhagen-Thiessen E , Demuth I , Kassner U |
Ref : J Lipid Res , :100589 , 2024 |
Abstract : |
PubMedSearch : Bardey_2024_J.Lipid.Res__100589 |
PubMedID: 38969064 |
Gene_locus related to this paper: human-LPL |