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| Title : Heterozygous hepatic lipase deficiency, due to two missense mutations R186H and L334F, in the HL gene - Knudsen_1997_Atherosclerosis_128_165 |
| Author(s) : Knudsen P , Antikainen M , Uusi-Oukari M , Ehnholm S , Lahdenpera S , Bensadoun A , Funke H , Wiebusch H , Assmann G , Taskinen MR , Ehnholm C |
| Ref : Atherosclerosis , 128 :165 , 1997 |
| Abstract : Knudsen_1997_Atherosclerosis_128_165 |
| ESTHER : Knudsen_1997_Atherosclerosis_128_165 |
| PubMedSearch : Knudsen_1997_Atherosclerosis_128_165 |
| PubMedID: 9050773 |
| Gene_locus related to this paper: human-LIPC |
| Title : A compound heterozygote for hepatic lipase gene mutations Leu334-->\;Phe and Thr383-->\;Met: correlation between hepatic lipase activity and phenotypic expression - Knudsen_1996_J.Lipid.Res_37_825 |
| Author(s) : Knudsen P , Antikainen M , Ehnholm S , Uusi-Oukari M , Tenkanen H , Lahdenpera S , Kahri J , Tilly-Kiesi M , Bensadoun A , Taskinen MR , Ehnholm C |
| Ref : J Lipid Res , 37 :825 , 1996 |
| Abstract : Knudsen_1996_J.Lipid.Res_37_825 |
| ESTHER : Knudsen_1996_J.Lipid.Res_37_825 |
| PubMedSearch : Knudsen_1996_J.Lipid.Res_37_825 |
| PubMedID: 8732782 |
| Title : A novel amino acid substitution (His183-->\;Gln) in exon 5 of the lipoprotein lipase gene results in loss of catalytic activity: phenotypic expression of the mutant gene in a heterozygous state - Tenkanen_1994_J.Lipid.Res_35_220 |
| Author(s) : Tenkanen H , Taskinen MR , Antikainen M , Ulmanen I , Kontula K , Ehnholm C |
| Ref : J Lipid Res , 35 :220 , 1994 |
| Abstract : Tenkanen_1994_J.Lipid.Res_35_220 |
| ESTHER : Tenkanen_1994_J.Lipid.Res_35_220 |
| PubMedSearch : Tenkanen_1994_J.Lipid.Res_35_220 |
| PubMedID: 8169525 |