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| Title : Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation Gly188Glu in the human LPL gene and review of reported mutations: 75 \% are clustered in exons 5 and 6 - Gilbert_2001_Ann.Genet_44_25 |
| Author(s) : Gilbert B , Rouis M , Griglio S , de Lumley L , Laplaud P |
| Ref : Ann Genet , 44 :25 , 2001 |
| Abstract : Gilbert_2001_Ann.Genet_44_25 |
| ESTHER : Gilbert_2001_Ann.Genet_44_25 |
| PubMedSearch : Gilbert_2001_Ann.Genet_44_25 |
| PubMedID: 11334614 |
| Title : Familial lecithin:cholesterol acyltransferase deficiency: molecular analysis of a compound heterozygote: LCAT (Arg147 --> Trp) and LCAT (Tyr171 --> Stop) - Guerin_1997_Atherosclerosis_131_85 |
| Author(s) : Guerin M , Dachet C , Goulinet S , Chevet D , Dolphin PJ , Chapman MJ , Rouis M |
| Ref : Atherosclerosis , 131 :85 , 1997 |
| Abstract : Guerin_1997_Atherosclerosis_131_85 |
| ESTHER : Guerin_1997_Atherosclerosis_131_85 |
| PubMedSearch : Guerin_1997_Atherosclerosis_131_85 |
| PubMedID: 9180249 |
| Title : Homozygosity for two point mutations in the lipoprotein lipase (LPL) gene in a patient with familial LPL deficiency: LPL(Asp9-->Asn, Tyr262-->His) - Rouis_1996_J.Lipid.Res_37_651 |
| Author(s) : Rouis M , Lohse P , Dugi KA , Beg OU , Ronan R , Talley GD , Brunzell JD , Santamarina-Fojo S |
| Ref : J Lipid Res , 37 :651 , 1996 |
| Abstract : Rouis_1996_J.Lipid.Res_37_651 |
| ESTHER : Rouis_1996_J.Lipid.Res_37_651 |
| PubMedSearch : Rouis_1996_J.Lipid.Res_37_651 |
| PubMedID: 8728326 |