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 : Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries - Ma_1994_Hum.Mutat_3_52 |
Author(s) : Ma Y , Liu MS , Chitayat D , Bruin T , Beisiegel U , Benlian P , Foubert L , De Gennes JL , Funke H , Forsythe I , Blaichman S , Papanikolaou M , Erkelens DW , Kastelein J , Brunzell JD , Hayden MR |
Ref : Hum Mutat , 3 :52 , 1994 |
Abstract : |
PubMedSearch : Ma_1994_Hum.Mutat_3_52 |
PubMedID: 7906986 |
Title : Familial high-density-lipoprotein deficiency causing corneal opacities (fish eye disease) in a family of Dutch descent - Kastelein_1992_J.Intern.Med_231_413 |
Author(s) : Kastelein JJ , Pritchard PH , Erkelens DW , Kuivenhoven JA , Albers JJ , Frohlich JJ |
Ref : J Intern Med , 231 :413 , 1992 |
Abstract : |
PubMedSearch : Kastelein_1992_J.Intern.Med_231_413 |
PubMedID: 1588268 |