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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 : Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this disease - Funke_1993_J.Clin.Invest_91_677 |
Author(s) : Funke H , von Eckardstein A , Pritchard PH , Hornby AE , Wiebusch H , Motti C , Hayden MR , Dachet C , Jacotot B , Gerdes U , Faergeman O , Albers JJ , Colleoni N , Catapano A , Frohlich J , Assmann G |
Ref : J Clinical Investigation , 91 :677 , 1993 |
Abstract : Funke_1993_J.Clin.Invest_91_677 |
ESTHER : Funke_1993_J.Clin.Invest_91_677 |
PubMedSearch : Funke_1993_J.Clin.Invest_91_677 |
PubMedID: 8432868 |
Gene_locus related to this paper: human-LCAT |