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.N281MfsX23 (c.840delG).Asn281MetfsTer23 in exon 6 leading to a premature termination codon (p.N254MfsX23 Asn254MetfsTer23 in mature protein). Found in a 23-day-old male patient compound heterozygote with a mutation deleting totally 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 : 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 : Severe hypertriglyceridemia in a newborn with monogenic lipoprotein lipase deficiency: an unconventional therapeutic approach with exchange transfusion - Pugni_2014_JIMD.Rep_13_59 |
| Author(s) : Pugni L , Riva E , Pietrasanta C , Rabacchi C , Bertolini S , Pederiva C , Mosca F , Calandra S |
| Ref : JIMD Rep , 13 :59 , 2014 |
| Abstract : Pugni_2014_JIMD.Rep_13_59 |
| ESTHER : Pugni_2014_JIMD.Rep_13_59 |
| PubMedSearch : Pugni_2014_JIMD.Rep_13_59 |
| PubMedID: 24142281 |