Gene Locus : human-LPL, human-LPL, 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.R197L Arg197Leu c.590G>L in homozygous patient but also as simple heterozygotes with mutation in GPIHBP1 C14F or in APO5 S19W
| Title : Lipoprotein lipase deficiency: heterozygotes match homozygotes in severity - Szczesniak_2025_Arch.Med.Sci_21_750 |
| Author(s) : Szczesniak D , Bednarska-Makaruk M , Drgas O , Kowalczyk K , Kacprzak MM , Aleksandrowicz P , Kotula L , Mroczek M |
| Ref : Arch Med Sci , 21 :750 , 2025 |
| Abstract : |
| PubMedSearch : Szczesniak_2025_Arch.Med.Sci_21_750 |
| PubMedID: 40741268 |
| Gene_locus related to this paper: human-LPL |
| Title : Lipoprotein lipase deficiency: heterozygotes match homozygotes in severity - Szczesniak_2025_Arch.Med.Sci_21_750 |
| Author(s) : Szczesniak D , Bednarska-Makaruk M , Drgas O , Kowalczyk K , Kacprzak MM , Aleksandrowicz P , Kotula L , Mroczek M |
| Ref : Arch Med Sci , 21 :750 , 2025 |
| Abstract : |
| PubMedSearch : Szczesniak_2025_Arch.Med.Sci_21_750 |
| PubMedID: 40741268 |
| Gene_locus related to this paper: human-LPL |
| Title : Lipoprotein lipase deficiency: heterozygotes match homozygotes in severity - Szczesniak_2025_Arch.Med.Sci_21_750 |
| Author(s) : Szczesniak D , Bednarska-Makaruk M , Drgas O , Kowalczyk K , Kacprzak MM , Aleksandrowicz P , Kotula L , Mroczek M |
| Ref : Arch Med Sci , 21 :750 , 2025 |
| Abstract : |
| PubMedSearch : Szczesniak_2025_Arch.Med.Sci_21_750 |
| PubMedID: 40741268 |
| Gene_locus related to this paper: human-LPL |
| 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 : |
| PubMedSearch : Rabacchi_2015_Atherosclerosis_241_79 |
| PubMedID: 25966443 |
| Gene_locus related to this paper: human-LPL |
| 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 : |
| PubMedSearch : Rabacchi_2015_Atherosclerosis_241_79 |
| PubMedID: 25966443 |
| Gene_locus related to this paper: human-LPL |
| 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 : |
| PubMedSearch : Rabacchi_2015_Atherosclerosis_241_79 |
| PubMedID: 25966443 |
| Gene_locus related to this paper: human-LPL |