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.250-1>G T85YfsX15 Thr85TyrfsTer15, V84EfsX86 Val84GlufsTer86 homozygous intronic variant acceptor site of exon1
| Title : Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia - Rabacchi_2015_Atherosclerosis_241_79 |
| Author(s) : Rabacchi C , Pisciotta L , Cefalu AB , Noto D , Fresa R , Tarugi P , Averna M , Bertolini S , Calandra S |
| Ref : Atherosclerosis , 241 :79 , 2015 |
| Abstract : Rabacchi_2015_Atherosclerosis_241_79 |
| ESTHER : Rabacchi_2015_Atherosclerosis_241_79 |
| PubMedSearch : Rabacchi_2015_Atherosclerosis_241_79 |
| PubMedID: 25966443 |
| Gene_locus related to this paper: human-LPL |
| Title : Genotype-phenotype relationships in patients with type I hyperlipoproteinemia - Chokshi_2014_J.Clin.Lipidol_8_287 |
| Author(s) : Chokshi N , Blumenschein SD , Ahmad Z , Garg A |
| Ref : J Clin Lipidol , 8 :287 , 2014 |
| Abstract : Chokshi_2014_J.Clin.Lipidol_8_287 |
| ESTHER : Chokshi_2014_J.Clin.Lipidol_8_287 |
| PubMedSearch : Chokshi_2014_J.Clin.Lipidol_8_287 |
| PubMedID: 24793350 |
| Gene_locus related to this paper: human-LPL |