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 :
R44Kfs*4
| Title : Familial lipoprotein lipase deficiency: a case of compound heterozygosity of a novel duplication (R44Kfs*4) and a common mutation (N291S) in the lipoprotein lipase gene - Overgaard_2013_Ann.Clin.Biochem_50_374 |
| Author(s) : Overgaard M , Brasen CL , Svaneby D , Feddersen S , Nybo M |
| Ref : Annals of Clinical Biochemistry , 50 :374 , 2013 |
| Abstract : |
| PubMedSearch : Overgaard_2013_Ann.Clin.Biochem_50_374 |
| PubMedID: 23761384 |
| Gene_locus related to this paper: human-LPL |