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.Y158D Tyr158Asp a newborn a novel compound heterozygous mutation (c.347 G>C and c.472 T>G) both Y158Dd and R116P
| Title : Maternally inherited diabetes and deafness coexists with lipoprotein lipase gene mutation-associated severe hyperlipidemia that was resistant to fenofibrate and atorvastatin, but sensitive to bezafibrate: A case report - Zhang_2022_J.Diabetes.Investig_13_397 |
| Author(s) : Zhang X , Chen Y , Tong N , Shao Q , Zhou Y , Mu T , Yang X , Zhang Y |
| Ref : J Diabetes Investig , 13 :397 , 2022 |
| Abstract : Zhang_2022_J.Diabetes.Investig_13_397 |
| ESTHER : Zhang_2022_J.Diabetes.Investig_13_397 |
| PubMedSearch : Zhang_2022_J.Diabetes.Investig_13_397 |
| PubMedID: 34460997 |
| Gene_locus related to this paper: human-LPL |
| Title : Rare novel LPL mutations are associated with neonatal onset lipoprotein lipase (LPL) deficiency in two cases - Wu_2021_BMC.Pediatr_21_414 |
| Author(s) : Wu YQ , Hu YY , Li GN |
| Ref : BMC Pediatr , 21 :414 , 2021 |
| Abstract : Wu_2021_BMC.Pediatr_21_414 |
| ESTHER : Wu_2021_BMC.Pediatr_21_414 |
| PubMedSearch : Wu_2021_BMC.Pediatr_21_414 |
| PubMedID: 34544385 |
| Gene_locus related to this paper: human-LPL |