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 : Ser423-Pro424del S423_P424del (del 6bp) (Ser396-Pro397 S396_P397del in the mature protein)
| Title : Diagnosis and management of type I and type V hyperlipoproteinemia - Gotoda_2012_J.Atheroscler.Thromb_19_1 |
| Author(s) : Gotoda T , Shirai K , Ohta T , Kobayashi J , Yokoyama S , Oikawa S , Bujo H , Ishibashi S , Arai H , Yamashita S , Harada-Shiba M , Eto M , Hayashi T , Sone H , Suzuki H , Yamada N |
| Ref : J Atheroscler Thromb , 19 :1 , 2012 |
| Abstract : Gotoda_2012_J.Atheroscler.Thromb_19_1 |
| ESTHER : Gotoda_2012_J.Atheroscler.Thromb_19_1 |
| PubMedSearch : Gotoda_2012_J.Atheroscler.Thromb_19_1 |
| PubMedID: 22129523 |
| Title : Familial lipoprotein lipase (LPL) deficiency: a catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy - Mailly_1997_Hum.Mutat_10_465 |
| Author(s) : Mailly F , Palmen J , Muller DP , Gibbs T , Lloyd J , Brunzell J , Durrington P , Mitropoulos K , Betteridge J , Watts G , Lithell H , Angelico F , Humphries SE , Talmud PJ |
| Ref : Hum Mutat , 10 :465 , 1997 |
| Abstract : Mailly_1997_Hum.Mutat_10_465 |
| ESTHER : Mailly_1997_Hum.Mutat_10_465 |
| PubMedSearch : Mailly_1997_Hum.Mutat_10_465 |
| PubMedID: 9401010 |