G351R_human-LPL

General

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.G351R Gly351Arg c.1051G>A homozygote

References (1)

Title : Genotype-phenotype relationships in patients with type I hyperlipoproteinemia - Chokshi_2014_J.Clin.Lipidol_8_287
Author(s) : Chokshi N , Blumenschein SD , Ahmad Z , Garg A
Ref : J Clin Lipidol , 8 :287 , 2014
Abstract :
PubMedSearch : Chokshi_2014_J.Clin.Lipidol_8_287
PubMedID: 24793350
Gene_locus related to this paper: human-LPL