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 : p.His71Gln H71Q (His44Gln H44Q in the mature protein which do not count signal peptide) rs11542065
Title : Genetic variants in the LPL and GPIHBP1 genes, in patients with severe hypertriglyceridaemia, detected with high resolution melting analysis - Ariza_2020_Clin.Chim.Acta_500_163 |
Author(s) : Ariza MJ , Perez-Lopez C , Almagro F , Sanchez-Tevar AM , Muniz-Grijalvo O , Alvarez-Sala Walter LA , Rioja J , Sanchez-Chaparro MA , Valdivielso P |
Ref : Clinica Chimica Acta , 500 :163 , 2020 |
Abstract : Ariza_2020_Clin.Chim.Acta_500_163 |
ESTHER : Ariza_2020_Clin.Chim.Acta_500_163 |
PubMedSearch : Ariza_2020_Clin.Chim.Acta_500_163 |
PubMedID: 31669931 |
Gene_locus related to this paper: human-LPL |