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| Title : Familial lipoprotein lipase (LPL) deficiency: a catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy - Mailly_1997_Hum.Mutat_10_465 |
| Author(s) : Mailly F , Palmen J , Muller DP , Gibbs T , Lloyd J , Brunzell J , Durrington P , Mitropoulos K , Betteridge J , Watts G , Lithell H , Angelico F , Humphries SE , Talmud PJ |
| Ref : Hum Mutat , 10 :465 , 1997 |
| Abstract : Mailly_1997_Hum.Mutat_10_465 |
| ESTHER : Mailly_1997_Hum.Mutat_10_465 |
| PubMedSearch : Mailly_1997_Hum.Mutat_10_465 |
| PubMedID: 9401010 |
| Title : Identification of the molecular defects underlying chylomicronemia in the majority of 75 separate probands with LPL deficiency. (Abstract) - |
| Author(s) : Henderson H , Ma Y , Kastelein J , Roederer G , Julien P , Brunzell J , Hayden MR |
| Ref : Clin Res , 39 :336A , 1991 |
| PubMedID: |
| 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 : 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: |