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.Gly81Asp G81D c.242G > A, (Gly64Asp G64D in the mature protein which do not count signal peptide)
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 : A three month-old infant with severe hyperchylomicronemia: Molecular diagnosis and extracorporeal treatment - Stefanutti_2013_Atheroscler.Suppl_14_73 |
Author(s) : Stefanutti C , Gozzer M , Pisciotta L , D'Eufemia P , Bosco G , Morozzi C , Papadia F , Shafii M , Di Giacomo S , Bertolini S |
Ref : Atheroscler Suppl , 14 :73 , 2013 |
Abstract : Stefanutti_2013_Atheroscler.Suppl_14_73 |
ESTHER : Stefanutti_2013_Atheroscler.Suppl_14_73 |
PubMedSearch : Stefanutti_2013_Atheroscler.Suppl_14_73 |
PubMedID: 23357145 |
Gene_locus related to this paper: human-LPL |