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.R197H Arg197His c.590G>A in a patient compound heterozygote with I252T mutation
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 : A Heterozygous LMF1 Gene Mutation (c.1523C>T), Combined With an LPL Gene Mutation (c.590G>A), Aggravates the Clinical Symptoms in Hypertriglyceridemia - Guo_2022_Front.Genet_13_814295 |
Author(s) : Guo D , Zheng Y , Gan Z , Guo Y , Jiang S , Yang F , Xiong F , Zheng H |
Ref : Front Genet , 13 :814295 , 2022 |
Abstract : Guo_2022_Front.Genet_13_814295 |
ESTHER : Guo_2022_Front.Genet_13_814295 |
PubMedSearch : Guo_2022_Front.Genet_13_814295 |
PubMedID: 35368694 |
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 |