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.Gly186Glu G186E c.557G>A (Gly159Glu G159E in the mature protein which do not count signal peptide) compound heterozygote for the maternal mutation c.557G>A (Gly159Glu) and the paternal mutation c.662T>C (Ile194Thr), both within exon 5
| Title : Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency - Santer_2005_J.Inherit.Metab.Dis_28_137 |
| Author(s) : Santer R , Gokcay G , Demirkol M , Gal A , Lukacs Z |
| Ref : J Inherit Metab Dis , 28 :137 , 2005 |
| Abstract : Santer_2005_J.Inherit.Metab.Dis_28_137 |
| ESTHER : Santer_2005_J.Inherit.Metab.Dis_28_137 |
| PubMedSearch : Santer_2005_J.Inherit.Metab.Dis_28_137 |
| PubMedID: 15877202 |