Gene Locus : human-LPL
Mode of mutation : Natural mutant
Disease : Hyperlipoproteinemia TypeI
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment : Partial gene duplication involving exon-Alu interchange Exon6
| 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 : 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: |