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| Title : Homozygosity for a mutation in the lipoprotein lipase gene (Gly139-->Ser) causes chylomicronaemia in a boy of Spanish descent - Bijvoet_1994_Hum.Genet_93_339 |
| Author(s) : Bijvoet SM , Bruin T , Tuzgol S , Bakker HD , Hayden MR , Kastelein JJ |
| Ref : Hum Genet , 93 :339 , 1994 |
| Abstract : Bijvoet_1994_Hum.Genet_93_339 |
| ESTHER : Bijvoet_1994_Hum.Genet_93_339 |
| PubMedSearch : Bijvoet_1994_Hum.Genet_93_339 |
| PubMedID: 8125488 |
| Title : A compound heterozygote for lipoprotein lipase deficiency, Val69-->\;Leu and Gly188-->\;Glu: correlation between in vitro LPL activity and clinical expression - Bruin_1994_J.Lipid.Res_35_438 |
| Author(s) : Bruin T , Tuzgol S , Mulder WJ , van den Ende AE , Jansen H , Hayden MR , Kastelein JJ |
| Ref : J Lipid Res , 35 :438 , 1994 |
| Abstract : Bruin_1994_J.Lipid.Res_35_438 |
| ESTHER : Bruin_1994_J.Lipid.Res_35_438 |
| PubMedSearch : Bruin_1994_J.Lipid.Res_35_438 |
| PubMedID: 7912254 |
| Title : Recurrent pancreatitis and chylomicronemia in an extended Dutch kindred is caused by a Gly154-->Ser substitution in lipoprotein lipase - Bruin_1993_J.Lipid.Res_34_2109 |
| Author(s) : Bruin T , Tuzgol S , Van Diermen DE , Hoogerbrugge-van der Linden N , Brunzell JD , Hayden MR , Kastelein JJ |
| Ref : J Lipid Res , 34 :2109 , 1993 |
| Abstract : Bruin_1993_J.Lipid.Res_34_2109 |
| ESTHER : Bruin_1993_J.Lipid.Res_34_2109 |
| PubMedSearch : Bruin_1993_J.Lipid.Res_34_2109 |
| PubMedID: 8301230 |
| Gene_locus related to this paper: human-LPL |
| Title : Two naturally occurring mutations at the first and second bases of codon aspartic acid 156 in the proposed catalytic triad of human lipoprotein lipase. In vivo evidence that aspartic acid 156 is essential for catalysis - Ma_1992_J.Biol.Chem_267_1918 |
| Author(s) : Ma YH , Bruin T , Tuzgol S , Wilson BI , Roederer G , Liu MS , Davignon J , Kastelein JJ , Brunzell JD , Hayden MR |
| Ref : Journal of Biological Chemistry , 267 :1918 , 1992 |
| Abstract : Ma_1992_J.Biol.Chem_267_1918 |
| ESTHER : Ma_1992_J.Biol.Chem_267_1918 |
| PubMedSearch : Ma_1992_J.Biol.Chem_267_1918 |
| PubMedID: 1730727 |
| Gene_locus related to this paper: human-LPL |