Q-12Efs11X_human-LPL

General

Gene Locus : No gene locus

Mode of mutation : Natural mutant

Disease :

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.Q-12E>11X Q-12Efs11X Frameshift with early truncation

References (1)

Title : Resequencing genomic DNA of patients with severe hypertriglyceridemia (MIM 144650) - Wang_2007_Arterioscler.Thromb.Vasc.Biol_27_2450
Author(s) : Wang J , Cao H , Ban MR , Kennedy BA , Zhu S , Anand S , Yusuf S , Pollex RL , Hegele RA
Ref : Arterioscler Thromb Vasc Biol , 27 :2450 , 2007
Abstract :
PubMedSearch : Wang_2007_Arterioscler.Thromb.Vasc.Biol_27_2450
PubMedID: 17717288
Gene_locus related to this paper: human-LPL