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| Title : The mutation Gly142-->\;Glu in human lipoprotein lipase produces a missorted protein that is diverted to lysosomes - Busca_1996_J.Biol.Chem_271_2139 |
| Author(s) : Busca R , Martinez M , Vilella E , Pognonec P , Deeb S , Auwerx J , Reina M , Vilaro S |
| Ref : Journal of Biological Chemistry , 271 :2139 , 1996 |
| Abstract : Busca_1996_J.Biol.Chem_271_2139 |
| ESTHER : Busca_1996_J.Biol.Chem_271_2139 |
| PubMedSearch : Busca_1996_J.Biol.Chem_271_2139 |
| PubMedID: 8567671 |
| Gene_locus related to this paper: human-LPL |
| Title : A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries - Monsalve_1990_J.Clin.Invest_86_728 |
| Author(s) : Monsalve MV , Henderson H , Roederer G , Julien P , Deeb S , Kastelein JJ , Peritz L , Devlin R , Bruin T , Murthy MR , et al. |
| Ref : J Clinical Investigation , 86 :728 , 1990 |
| Abstract : Monsalve_1990_J.Clin.Invest_86_728 |
| ESTHER : Monsalve_1990_J.Clin.Invest_86_728 |
| PubMedSearch : Monsalve_1990_J.Clin.Invest_86_728 |
| PubMedID: 1975597 |
| Gene_locus related to this paper: human-LPL |
| Title : Partial gene duplication involving exon-Alu interchange results in lipoprotein lipase deficiency - Devlin_1990_Am.J.Hum.Genet_46_112 |
| Author(s) : Devlin RH , Deeb S , Brunzell J , Hayden MR |
| Ref : American Journal of Human Genetics , 46 :112 , 1990 |
| Abstract : Devlin_1990_Am.J.Hum.Genet_46_112 |
| ESTHER : Devlin_1990_Am.J.Hum.Genet_46_112 |
| PubMedSearch : Devlin_1990_Am.J.Hum.Genet_46_112 |
| PubMedID: 2294743 |
| Gene_locus related to this paper: human-LPL |
| Title : The molecular biology of hypertriglyceridemia: characterization of mutations in patients with lipoprotein lipase deficiency. (Abstract) - Devlin_1989_Am.J.Hum.Genet_45_A4 |
| Author(s) : Devlin R , Henderson H , Monsalve V , Brunzell J , Deeb S , Hayden MR |
| Ref : American Journal of Human Genetics , 45 (suppl.) :A4 , 1989 |
| Abstract : Devlin_1989_Am.J.Hum.Genet_45_A4 |
| ESTHER : Devlin_1989_Am.J.Hum.Genet_45_A4 |
| PubMedSearch : Devlin_1989_Am.J.Hum.Genet_45_A4 |
| PubMedID: |
| Title : A major insertion accounts for a significant proportion of mutations underlying human lipoprotein lipase deficiency - Langlois_1989_Proc.Natl.Acad.Sci.U.S.A_86_948 |
| Author(s) : Langlois S , Deeb S , Brunzell JD , Kastelein JJ , Hayden MR |
| Ref : Proc Natl Acad Sci U S A , 86 :948 , 1989 |
| Abstract : Langlois_1989_Proc.Natl.Acad.Sci.U.S.A_86_948 |
| ESTHER : Langlois_1989_Proc.Natl.Acad.Sci.U.S.A_86_948 |
| PubMedSearch : Langlois_1989_Proc.Natl.Acad.Sci.U.S.A_86_948 |
| PubMedID: 2536938 |
| Title : Characterization of six partial deletions in the low-density-lipoprotein (LDL) receptor gene causing familial hypercholesterolemia (FH) - Langlois_1988_Am.J.Hum.Genet_43_60 |
| Author(s) : Langlois S , Deeb S , Brunzell J , Kastelein JJ , Hayden MR |
| Ref : American Journal of Human Genetics , 43 :60 , 1988 |
| Abstract : Langlois_1988_Am.J.Hum.Genet_43_60 |
| ESTHER : Langlois_1988_Am.J.Hum.Genet_43_60 |
| PubMedSearch : Langlois_1988_Am.J.Hum.Genet_43_60 |
| PubMedID: 2837085 |
| Title : A unique insertion accounts for a significant proportion of the mutations in the lipoprotein lipase (LPL) gene. (Abstract) - Langlois_1988_Am.J.Hum.Genet_43_A191 |
| Author(s) : Langlois S , Deeb S , Brunzell J , Kastelein JJ , Hayden MR |
| Ref : American Journal of Human Genetics , 43 :A191 , 1988 |
| Abstract : Langlois_1988_Am.J.Hum.Genet_43_A191 |
| ESTHER : Langlois_1988_Am.J.Hum.Genet_43_A191 |
| PubMedSearch : Langlois_1988_Am.J.Hum.Genet_43_A191 |
| PubMedID: |