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| Title : A missense mutation (Trp86----Arg) in exon 3 of the lipoprotein lipase gene: a cause of familial chylomicronemia - Ishimura-Oka_1992_Am.J.Hum.Genet_50_1275 |
| Author(s) : Ishimura-Oka K , Faustinella F , Kihara S , Smith LC , Oka K , Chan L |
| Ref : American Journal of Human Genetics , 50 :1275 , 1992 |
| Abstract : Ishimura-Oka_1992_Am.J.Hum.Genet_50_1275 |
| ESTHER : Ishimura-Oka_1992_Am.J.Hum.Genet_50_1275 |
| PubMedSearch : Ishimura-Oka_1992_Am.J.Hum.Genet_50_1275 |
| PubMedID: 1598907 |
| Gene_locus related to this paper: human-LPL |
| Title : A missense (Asp250----Asn) mutation in the lipoprotein lipase gene in two unrelated families with familial lipoprotein lipase deficiency - Ishimura-Oka_1992_J.Lipid.Res_33_745 |
| Author(s) : Ishimura-Oka K , Semenkovich CF , Faustinella F , Goldberg IJ , Shachter N , Smith LC , Coleman T , Hide WA , Brown WV , Oka K , et al. |
| Ref : J Lipid Res , 33 :745 , 1992 |
| Abstract : Ishimura-Oka_1992_J.Lipid.Res_33_745 |
| ESTHER : Ishimura-Oka_1992_J.Lipid.Res_33_745 |
| PubMedSearch : Ishimura-Oka_1992_J.Lipid.Res_33_745 |
| PubMedID: 1619366 |
| Gene_locus related to this paper: human-LPL |
| Title : Catalytic triad residue mutation (Asp156----Gly) causing familial lipoprotein lipase deficiency. Co-inheritance with a nonsense mutation (Ser447----Ter) in a Turkish family - Faustinella_1991_J.Biol.Chem_266_14418 |
| Author(s) : Faustinella F , Chang A , Van Biervliet JP , Rosseneu M , Vinaimont N , Smith LC , Chen SH , Chan L |
| Ref : Journal of Biological Chemistry , 266 :14418 , 1991 |
| Abstract : Faustinella_1991_J.Biol.Chem_266_14418 |
| ESTHER : Faustinella_1991_J.Biol.Chem_266_14418 |
| PubMedSearch : Faustinella_1991_J.Biol.Chem_266_14418 |
| PubMedID: 1907278 |
| Gene_locus related to this paper: human-LPL |
| Title : Structural and functional roles of highly conserved serines in human lipoprotein lipase. Evidence that serine 132 is essential for enzyme catalysis - Faustinella_1991_J.Biol.Chem_266_9481 |
| Author(s) : Faustinella F , Smith LC , Semenkovich CF , Chan L |
| Ref : Journal of Biological Chemistry , 266 :9481 , 1991 |
| Abstract : Faustinella_1991_J.Biol.Chem_266_9481 |
| ESTHER : Faustinella_1991_J.Biol.Chem_266_9481 |
| PubMedSearch : Faustinella_1991_J.Biol.Chem_266_9481 |
| PubMedID: 1903387 |