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| 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 : Bijvoet_1996_Neth.J.Med_49_189 |
| ESTHER : Bijvoet_1996_Neth.J.Med_49_189 |
| PubMedSearch : Bijvoet_1996_Neth.J.Med_49_189 |
| PubMedID: 8973094 |
| 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 : Bijvoet_1994_Hum.Genet_93_339 |
| ESTHER : Bijvoet_1994_Hum.Genet_93_339 |
| PubMedSearch : Bijvoet_1994_Hum.Genet_93_339 |
| PubMedID: 8125488 |
| Title : A missense mutation (Asp250----Asn) in exon 6 of the human lipoprotein lipase gene causes chylomicronemia in patients of different ancestries - Ma_1992_Genomics_13_649 |
| Author(s) : Ma Y , Wilson BI , Bijvoet S , Henderson HE , Cramb E , Roederer G , Ven Murthy MR , Julien P , Bakker HD , Kastelein JJ , Brunzel JD , Hayden MR |
| Ref : Genomics , 13 :649 , 1992 |
| Abstract : Ma_1992_Genomics_13_649 |
| ESTHER : Ma_1992_Genomics_13_649 |
| PubMedSearch : Ma_1992_Genomics_13_649 |
| PubMedID: 1639392 |
| Gene_locus related to this paper: human-LPL |