Homozygous missense mutation (G56R) in glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPI-HBP1) in two siblings with fasting chylomicronemia (MIM 144650)
Open Access
- 1 January 2007
- journal article
- case report
- Published by Springer Nature in Lipids in Health and Disease
- Vol. 6 (1) , 23
- https://doi.org/10.1186/1476-511x-6-23
Abstract
No abstract availableKeywords
This publication has 6 references indexed in Scilit:
- Glycosylphosphatidylinositol-Anchored High-Density Lipoprotein-Binding Protein 1 Plays a Critical Role in the Lipolytic Processing of ChylomicronsCell Metabolism, 2007
- Expression Cloning and Characterization of a Novel Glycosylphosphatidylinositol-anchored High Density Lipoprotein-binding Protein, GPI-HBP1Journal of Biological Chemistry, 2003
- Premature Atherosclerosis Associated With Monogenic Insulin ResistanceCirculation, 2001
- Prediction of deleterious human allelesHuman Molecular Genetics, 2001
- Missense mutation (Gly----Glu188) of human lipoprotein lipase imparting functional deficiency.Journal of Biological Chemistry, 1990
- Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI.Journal of Lipid Research, 1990