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| 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 : Wilson_1993_J.Clin.Invest_92_203 |
| ESTHER : Wilson_1993_J.Clin.Invest_92_203 |
| PubMedSearch : Wilson_1993_J.Clin.Invest_92_203 |
| PubMedID: 8325986 |
| Gene_locus related to this paper: human-LPL |
| Title : Missense mutations in exon 5 of the human lipoprotein lipase gene. Inactivation correlates with loss of dimerization - Hata_1992_J.Biol.Chem_267_20132 |
| Author(s) : Hata A , Ridinger DN , Sutherland SD , Emi M , Kwong LK , Shuhua J , Lubbers A , Guy-Grand B , Basdevant A , Iverius PH , et al. |
| Ref : Journal of Biological Chemistry , 267 :20132 , 1992 |
| Abstract : Hata_1992_J.Biol.Chem_267_20132 |
| ESTHER : Hata_1992_J.Biol.Chem_267_20132 |
| PubMedSearch : Hata_1992_J.Biol.Chem_267_20132 |
| PubMedID: 1400331 |
| Gene_locus related to this paper: human-LPL |
| 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 : Wilson_1990_J.Clin.Invest_86_735 |
| ESTHER : Wilson_1990_J.Clin.Invest_86_735 |
| PubMedSearch : Wilson_1990_J.Clin.Invest_86_735 |
| PubMedID: 2394828 |
| 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 : Hata_1990_Am.J.Hum.Genet_47_721 |
| ESTHER : Hata_1990_Am.J.Hum.Genet_47_721 |
| PubMedSearch : Hata_1990_Am.J.Hum.Genet_47_721 |
| PubMedID: 2121025 |
| Gene_locus related to this paper: human-LPL |
| 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 : Emi_1990_J.Biol.Chem_265_5910 |
| ESTHER : Emi_1990_J.Biol.Chem_265_5910 |
| 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 : Emi_1990_Am.J.Hum.Genet_47_107 |
| ESTHER : Emi_1990_Am.J.Hum.Genet_47_107 |
| PubMedSearch : Emi_1990_Am.J.Hum.Genet_47_107 |
| PubMedID: 2349938 |
| Gene_locus related to this paper: human-LPL |
| Title : Defective enzyme protein in lipoprotein lipase deficiency - Auwerx_1989_Eur.J.Clin.Invest_19_433 |
| Author(s) : Auwerx JH , Babirak SP , Fujimoto WY , Iverius PH , Brunzell JD |
| Ref : European Journal of Clinical Investigation , 19 :433 , 1989 |
| Abstract : Auwerx_1989_Eur.J.Clin.Invest_19_433 |
| ESTHER : Auwerx_1989_Eur.J.Clin.Invest_19_433 |
| PubMedSearch : Auwerx_1989_Eur.J.Clin.Invest_19_433 |
| PubMedID: 2511019 |
| Title : Primary lipoprotein lipase deficiency - Brunzell_1986_Adv.Exp.Med.Biol_201_227 |
| Author(s) : Brunzell JD , Iverius PH , Scheibel MS , Fujimoto WY , Hayden MR , McLeod R , Frolich J |
| Ref : Advances in Experimental Medicine & Biology , 201 :227 , 1986 |
| Abstract : Brunzell_1986_Adv.Exp.Med.Biol_201_227 |
| ESTHER : Brunzell_1986_Adv.Exp.Med.Biol_201_227 |
| PubMedSearch : Brunzell_1986_Adv.Exp.Med.Biol_201_227 |
| PubMedID: 3541517 |
| Title : Lipoprotein lipase from bovine milk. Isolation procedure, chemical characterization, and molecular weight analysis - Iverius_1976_J.Biol.Chem_251_7791 |
| Author(s) : Iverius PH , Ostlund-Lindqvist AM |
| Ref : Journal of Biological Chemistry , 251 :7791 , 1976 |
| Abstract : Iverius_1976_J.Biol.Chem_251_7791 |
| ESTHER : Iverius_1976_J.Biol.Chem_251_7791 |
| PubMedSearch : Iverius_1976_J.Biol.Chem_251_7791 |
| PubMedID: 826537 |