Gene Locus : No gene locus
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 :
384del1ins6, located in exon 3 of the LPL gene
Title : Frameshift mutation in exon 3 of the lipoprotein lipase gene causes a premature stop codon and lipoprotein lipase deficiency - Henderson_1990_Mol.Biol.Med_7_511 |
Author(s) : Henderson HE , Devlin R , Peterson J , Brunzell JD , Hayden MR |
Ref : Mol Biol Med , 7 :511 , 1990 |
Abstract : |
PubMedSearch : Henderson_1990_Mol.Biol.Med_7_511 |
PubMedID: 2077351 |
Gene_locus related to this paper: human-LPL |