T85KfsX13_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 :
Thr58Lys insT fs*13, located in exon 2

References (1)

Title : Molecular analysis of chylomicronemia in a clinical laboratory setting: diagnosis of 13 cases of lipoprotein lipase deficiency - Martin-Campos_2014_Clin.Chim.Acta_429_61
Author(s) : Martin-Campos JM , Julve J , Roig R , Martinez S , Errico TL , Martinez-Couselo S , Escola-Gil JC , Mendez-Gonzalez J , Blanco-Vaca F
Ref : Clinica Chimica Acta , 429 :61 , 2014
Abstract :
PubMedSearch : Martin-Campos_2014_Clin.Chim.Acta_429_61
PubMedID: 24291057
Gene_locus related to this paper: human-LPL