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.461A>G p.H154R His154Arg (H118R His118Arg in the mature protein) (Li 2022 An asymptomatic 3.5-month-old Chinese girl with only milky blood compound-heterozygous mutations c.862G>A (p.A288T) and c.461A>G (p.H154R)
| Title : Clinical profile, genetic spectrum and therapy evaluation of 19 Chinese pediatric patients with lipoprotein lipase deficiency - Xia_2023_J.Clin.Lipidol__ |
| Author(s) : Xia Y , Zheng W , Du T , Gong Z , Liang L , Wang R , Yang Y , Zhang K , Lu D , Chen X , Sun Y , Xiao B , Qiu W |
| Ref : J Clin Lipidol , : , 2023 |
| Abstract : Xia_2023_J.Clin.Lipidol__ |
| ESTHER : Xia_2023_J.Clin.Lipidol__ |
| PubMedSearch : Xia_2023_J.Clin.Lipidol__ |
| PubMedID: 37858495 |
| Gene_locus related to this paper: human-LPL |
| Title : Case Report: Next-Generation Sequencing Identified a Novel Pair of Compound-Heterozygous Mutations of LPL Gene Causing Lipoprotein Lipase Deficiency - Li_2022_Front.Genet_13_831133 |
| Author(s) : Li Y , Hu M , Han L , Feng L , Yang L , Chen X , Du T , Yao H |
| Ref : Front Genet , 13 :831133 , 2022 |
| Abstract : Li_2022_Front.Genet_13_831133 |
| ESTHER : Li_2022_Front.Genet_13_831133 |
| PubMedSearch : Li_2022_Front.Genet_13_831133 |
| PubMedID: 35309119 |
| Gene_locus related to this paper: human-LPL |
| Title : Novel pathogenic variant combination in LPL causing familial chylomicronemia syndrome in an Asian family and experimental validation in vitro: a case report - Shi_2022_Transl.Pediatr_11_1717 |
| Author(s) : Shi H , Wang Z |
| Ref : Transl Pediatr , 11 :1717 , 2022 |
| Abstract : Shi_2022_Transl.Pediatr_11_1717 |
| ESTHER : Shi_2022_Transl.Pediatr_11_1717 |
| PubMedSearch : Shi_2022_Transl.Pediatr_11_1717 |
| PubMedID: 36345447 |
| Gene_locus related to this paper: human-LPL |