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 :
Leu128Pro, located in exon 4 c.464T>C (p.Leu155Pro)
| Title : Clinical features and genetic analysis of three patients with severe hypertriglyceridaemia - Hooper_2014_Ann.Clin.Biochem_51_485 |
| Author(s) : Hooper AJ , Kurtkoti J , Hamilton-Craig I , Burnett JR |
| Ref : Annals of Clinical Biochemistry , 51 :485 , 2014 |
| Abstract : |
| PubMedSearch : Hooper_2014_Ann.Clin.Biochem_51_485 |
| PubMedID: 24591733 |
| Gene_locus related to this paper: human-LPL |