Title : Lipoprotein lipase. Molecular model based on the pancreatic lipase x-ray structure: consequences for heparin binding and catalysis - van Tilbeurgh_1994_J.Biol.Chem_269_4626 |
Author(s) : van Tilbeurgh H , Roussel A , Lalouel JM , Cambillau C |
Ref : Journal of Biological Chemistry , 269 :4626 , 1994 |
Abstract : |
PubMedSearch : van Tilbeurgh_1994_J.Biol.Chem_269_4626 |
PubMedID: 8308035 |
Title : Mutations in exon 3 of the lipoprotein lipase gene segregating in a family with hypertriglyceridemia, pancreatitis, and non-insulin-dependent diabetes - Wilson_1993_J.Clin.Invest_92_203 |
Author(s) : Wilson DE , Hata A , Kwong LK , Lingam A , Shuhua J , Ridinger DN , Yeager C , Kaltenborn KC , Iverius PH , Lalouel JM |
Ref : J Clinical Investigation , 92 :203 , 1993 |
Abstract : |
PubMedSearch : Wilson_1993_J.Clin.Invest_92_203 |
PubMedID: 8325986 |
Gene_locus related to this paper: human-LPL |
Title : Compound heterozygote for lipoprotein lipase deficiency: Ser----Thr244 and transition in 3' splice site of intron 2 (AG----AA) in the lipoprotein lipase gene - Hata_1990_Am.J.Hum.Genet_47_721 |
Author(s) : Hata A , Emi M , Luc G , Basdevant A , Gambert P , Iverius PH , Lalouel JM |
Ref : American Journal of Human Genetics , 47 :721 , 1990 |
Abstract : |
PubMedSearch : Hata_1990_Am.J.Hum.Genet_47_721 |
PubMedID: 2121025 |
Gene_locus related to this paper: human-LPL |
Title : Direct detection and automated sequencing of individual alleles after electrophoretic strand separation: identification of a common nonsense mutation in exon 9 of the human lipoprotein lipase gene - Hata_1990_Nucleic.Acids.Res_18_5407 |
Author(s) : Hata A , Robertson M , Emi M , Lalouel JM |
Ref : Nucleic Acids Research , 18 :5407 , 1990 |
Abstract : |
PubMedSearch : Hata_1990_Nucleic.Acids.Res_18_5407 |
PubMedID: 2216713 |
Title : Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense mutation - Wilson_1990_J.Clin.Invest_86_735 |
Author(s) : Wilson DE , Emi M , Iverius PH , Hata A , Wu LL , Hillas E , Williams RR , Lalouel JM |
Ref : J Clinical Investigation , 86 :735 , 1990 |
Abstract : |
PubMedSearch : Wilson_1990_J.Clin.Invest_86_735 |
PubMedID: 2394828 |
Title : Missense mutation (Gly----Glu188) of human lipoprotein lipase imparting functional deficiency - Emi_1990_J.Biol.Chem_265_5910 |
Author(s) : Emi M , Wilson DE , Iverius PH , Wu L , Hata A , Hegele R , Williams RR , Lalouel JM |
Ref : Journal of Biological Chemistry , 265 :5910 , 1990 |
Abstract : |
PubMedSearch : Emi_1990_J.Biol.Chem_265_5910 |
PubMedID: 1969408 |
Gene_locus related to this paper: human-LPL |
Title : Lipoprotein lipase deficiency resulting from a nonsense mutation in exon 3 of the lipoprotein lipase gene - Emi_1990_Am.J.Hum.Genet_47_107 |
Author(s) : Emi M , Hata A , Robertson M , Iverius PH , Hegele R , Lalouel JM |
Ref : American Journal of Human Genetics , 47 :107 , 1990 |
Abstract : |
PubMedSearch : Emi_1990_Am.J.Hum.Genet_47_107 |
PubMedID: 2349938 |
Gene_locus related to this paper: human-LPL |