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.Leu313Pro L313 (p.Leu298Pro L298P in the mature protein)
Title : Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene - Benlian_1996_N.Engl.J.Med_335_848 |
Author(s) : Benlian P , De Gennes JL , Foubert L , Zhang H , Gagne SE , Hayden M |
Ref : N Engl J Med , 335 :848 , 1996 |
Abstract : |
PubMedSearch : Benlian_1996_N.Engl.J.Med_335_848 |
PubMedID: 8778602 |
Gene_locus related to this paper: human-LPL |