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| 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 |
| Title : Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele - Taramelli_1990_Hum.Genet_85_195 |
| Author(s) : Taramelli R , Pontoglio M , Candiani G , Ottolenghi S , Dieplinger H , Catapano A , Albers J , Vergani C , McLean J |
| Ref : Hum Genet , 85 :195 , 1990 |
| Abstract : Taramelli_1990_Hum.Genet_85_195 |
| ESTHER : Taramelli_1990_Hum.Genet_85_195 |
| PubMedSearch : Taramelli_1990_Hum.Genet_85_195 |
| PubMedID: 2370048 |
| Gene_locus related to this paper: human-LCAT |
| Title : A study of the structure of the gene for lecithin: cholesterol acyltransferase in four unrelated individuals with familial lecithin: cholesterol acyltransferase deficiency - Humphries_1988_Clin.Sci.(Lond)_74_91 |
| Author(s) : Humphries SE , Chaves ME , Tata F , Lima VL , Owen JS , Borysiewicz LK , Catapano A , Vergani C , Gjone E , Clemens MR , et al. |
| Ref : Clinical Science (Lond) , 74 :91 , 1988 |
| Abstract : Humphries_1988_Clin.Sci.(Lond)_74_91 |
| ESTHER : Humphries_1988_Clin.Sci.(Lond)_74_91 |
| PubMedSearch : Humphries_1988_Clin.Sci.(Lond)_74_91 |
| PubMedID: 3338256 |