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 :
A patient was homozygous for a novel variant in the exon 5 c.679G > T (V227F)
| Title : Molecular analysis of three known and one novel LPL variants in patients with type I hyperlipoproteinemia - Caddeo_2018_Nutr.Metab.Cardiovasc.Dis_28_158 |
| Author(s) : Caddeo A , Mancina RM , Pirazzi C , Russo C , Sasidharan K , Sandstedt J , Maurotti S , Montalcini T , Pujia A , Leren TP , Romeo S , Pingitore P |
| Ref : Nutr Metab Cardiovasc Dis , 28 :158 , 2018 |
| Abstract : |
| PubMedSearch : Caddeo_2018_Nutr.Metab.Cardiovasc.Dis_28_158 |
| PubMedID: 29288010 |
| Gene_locus related to this paper: human-LPL |