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| Title : A first British case of fish-eye disease presenting at age 75 years: a double heterozygote for defined and new mutations affecting LCAT structure and expression - Winder_1999_J.Clin.Pathol_52_228 |
| Author(s) : Winder AF , Owen JS , Pritchard PH , Lloyd-Jones D , Vallance DT , White P , Wray R |
| Ref : Journal of Clinical Pathology , 52 :228 , 1999 |
| Abstract : Winder_1999_J.Clin.Pathol_52_228 |
| ESTHER : Winder_1999_J.Clin.Pathol_52_228 |
| PubMedSearch : Winder_1999_J.Clin.Pathol_52_228 |
| PubMedID: 10450185 |
| Title : Deficiency of lecithin:cholesterol acyltransferase due to compound heterozygosity of two novel mutations (Gly33Arg and 30 bp ins) in the LCAT gene - |
| Author(s) : Wiebusch H , Cullen P , Owen JS , Collins D , Sharp PS , Funke H , Assmann G |
| Ref : Hum Mol Genet , 4 :143 , 1995 |
| PubMedID: 7711728 |
| 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 |
| Title : Hereditary lecithin-cholesterol acyltransferase deficiency. Case report of a German patient - Weber_1987_Am.J.Clin.Pathol_88_510 |
| Author(s) : Weber P , Owen JS , Desai K , Clemens MR |
| Ref : American Journal of Clinical Pathology , 88 :510 , 1987 |
| Abstract : Weber_1987_Am.J.Clin.Pathol_88_510 |
| ESTHER : Weber_1987_Am.J.Clin.Pathol_88_510 |
| PubMedSearch : Weber_1987_Am.J.Clin.Pathol_88_510 |
| PubMedID: 3661502 |
| Title : Lecithin-cholesterol acyltransferase and the lipoprotein abnormalities of parenchymal liver disease - Day_1979_Clin.Sci.(Lond)_56_575 |
| Author(s) : Day RC , Harry DS , Owen JS , Foo AY , McIntyre N |
| Ref : Clinical Science (Lond) , 56 :575 , 1979 |
| Abstract : Day_1979_Clin.Sci.(Lond)_56_575 |
| ESTHER : Day_1979_Clin.Sci.(Lond)_56_575 |
| PubMedSearch : Day_1979_Clin.Sci.(Lond)_56_575 |
| PubMedID: 225095 |