Title : Ile225Thr loop mutation in the lipoprotein lipase (LPL) gene is a de novo event - Henderson_1998_Am.J.Med.Genet_78_313 |
Author(s) : Henderson HE , Bijvoet SM , Mannens MA , Bruin T , Erkelens DW , Hayden MR , Kastelein JJ |
Ref : American Journal of Medicine Genet , 78 :313 , 1998 |
Abstract : |
PubMedSearch : Henderson_1998_Am.J.Med.Genet_78_313 |
PubMedID: 9714430 |
Title : Compound heterozygosity for a known and a novel defect in the lipoprotein lipase gene (Asp250-->\;Asn\; Ser251-->\;Cys) resulting in lipoprotein lipase (LPL) deficiency - Bijvoet_1996_Neth.J.Med_49_189 |
Author(s) : Bijvoet SM , Wiebusch H , Ma Y , Reymer PW , Bruin T , Bakker HD , Funke H , Assmann G , Hayden MR , Kastelein JJ |
Ref : Neth J Med , 49 :189 , 1996 |
Abstract : |
PubMedSearch : Bijvoet_1996_Neth.J.Med_49_189 |
PubMedID: 8973094 |
Title : A frequently occurring mutation in the lipoprotein lipase gene (Asn291Ser) contributes to the expression of familial combined hyperlipidemia - Reymer_1995_Hum.Mol.Genet_4_1543 |
Author(s) : Reymer PW , Groenemeyer BE , Gagne E , Miao L , Appelman EE , Seidel JC , Kromhout D , Bijvoet SM , van de Oever K , Bruin T , et al. |
Ref : Hum Mol Genet , 4 :1543 , 1995 |
Abstract : |
PubMedSearch : Reymer_1995_Hum.Mol.Genet_4_1543 |
PubMedID: 8541837 |
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 : |
PubMedSearch : Bijvoet_1994_Hum.Genet_93_339 |
PubMedID: 8125488 |
Title : The familial hyperchylomicronaemia syndrome - Bijvoet_1993_Neth.J.Med_42_36 |
Author(s) : Bijvoet SM , Bruin T , Kastelein JJ |
Ref : Neth J Med , 42 :36 , 1993 |
Abstract : |
PubMedSearch : Bijvoet_1993_Neth.J.Med_42_36 |
PubMedID: 8446222 |
Title : Mismatch PCR: a rapid method to screen for the Pro207-->Leu mutation in the lipoprotein lipase (LPL) gene - |
Author(s) : Bijvoet SM , Hayden MR |
Ref : Hum Mol Genet , 1 :541 , 1992 |
PubMedID: 1307255 |