| 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 : |
| PubMedSearch : Winder_1999_J.Clin.Pathol_52_228 |
| PubMedID: 10450185 |
| Title : Transmission of two novel mutations in a pedigree with familial lecithin:cholesterol acyltransferase deficiency: structure-function relationships and studies in a compound heterozygous proband - Argyropoulos_1998_J.Lipid.Res_39_1870 |
| Author(s) : Argyropoulos G , Jenkins A , Klein RL , Lyons T , Wagenhorst B , St Armand J , Marcovina SM , Albers JJ , Pritchard PH , Garvey WT |
| Ref : J Lipid Res , 39 :1870 , 1998 |
| Abstract : |
| PubMedSearch : Argyropoulos_1998_J.Lipid.Res_39_1870 |
| PubMedID: 9741700 |
| Title : Two novel molecular defects in the LCAT gene are associated with fish eye disease - Kuivenhoven_1996_Arterioscler.Thromb.Vasc.Biol_16_294 |
| Author(s) : Kuivenhoven JA , Stalenhoef AF , Hill JS , Demacker PN , Errami A , Kastelein JJ , Pritchard PH |
| Ref : Arterioscler Thromb Vasc Biol , 16 :294 , 1996 |
| Abstract : |
| PubMedSearch : Kuivenhoven_1996_Arterioscler.Thromb.Vasc.Biol_16_294 |
| PubMedID: 8620346 |
| Title : An intronic mutation in a lariat branchpoint sequence is a direct cause of an inherited human disorder (fish-eye disease) - Kuivenhoven_1996_J.Clin.Invest_98_358 |
| Author(s) : Kuivenhoven JA , Weibusch H , Pritchard PH , Funke H , Benne R , Assmann G , Kastelein JJ |
| Ref : J Clinical Investigation , 98 :358 , 1996 |
| Abstract : |
| PubMedSearch : Kuivenhoven_1996_J.Clin.Invest_98_358 |
| PubMedID: 8755645 |
| Title : A unique genetic and biochemical presentation of fish-eye disease - Kuivenhoven_1995_J.Clin.Invest_96_2783 |
| Author(s) : Kuivenhoven JA , van Voorst tot Voorst EJ , Wiebusch H , Marcovina SM , Funke H , Assmann G , Pritchard PH , Kastelein JJ |
| Ref : J Clinical Investigation , 96 :2783 , 1995 |
| Abstract : |
| PubMedSearch : Kuivenhoven_1995_J.Clin.Invest_96_2783 |
| PubMedID: 8675648 |
| 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 : |
| PubMedSearch : Funke_1993_J.Clin.Invest_91_677 |
| PubMedID: 8432868 |
| Gene_locus related to this paper: human-LCAT |
| Title : Lecithin:cholesterol acyltransferase deficiency: identification of a causative gene mutation and a co-inherited protein polymorphism - Hill_1993_Biochim.Biophys.Acta_1181_321 |
| Author(s) : Hill JS , O K , Wang X , Pritchard PH |
| Ref : Biochimica & Biophysica Acta , 1181 :321 , 1993 |
| Abstract : |
| PubMedSearch : Hill_1993_Biochim.Biophys.Acta_1181_321 |
| PubMedID: 8318557 |
| Gene_locus related to this paper: human-LCAT |
| Title : Two different allelic mutations in the lecithin-cholesterol acyltransferase gene associated with the fish eye syndrome. Lecithin-cholesterol acyltransferase (Thr123----Ile) and lecithin-cholesterol acyltransferase (Thr347----Met) - Klein_1992_J.Clin.Invest_89_499 |
| Author(s) : Klein HG , Lohse P , Pritchard PH , Bojanovski D , Schmidt H , Brewer HB, Jr. |
| Ref : J Clinical Investigation , 89 :499 , 1992 |
| Abstract : |
| PubMedSearch : Klein_1992_J.Clin.Invest_89_499 |
| PubMedID: 1737840 |
| Gene_locus related to this paper: human-LCAT |
| Title : Familial high-density-lipoprotein deficiency causing corneal opacities (fish eye disease) in a family of Dutch descent - Kastelein_1992_J.Intern.Med_231_413 |
| Author(s) : Kastelein JJ , Pritchard PH , Erkelens DW , Kuivenhoven JA , Albers JJ , Frohlich JJ |
| Ref : J Intern Med , 231 :413 , 1992 |
| Abstract : |
| PubMedSearch : Kastelein_1992_J.Intern.Med_231_413 |
| PubMedID: 1588268 |
| Title : A molecular defect causing fish eye disease: an amino acid exchange in lecithin-cholesterol acyltransferase (LCAT) leads to the selective loss of alpha-LCAT activity - Funke_1991_Proc.Natl.Acad.Sci.U.S.A_88_4855 |
| Author(s) : Funke H , von Eckardstein A , Pritchard PH , Albers JJ , Kastelein JJ , Droste C , Assmann G |
| Ref : Proc Natl Acad Sci U S A , 88 :4855 , 1991 |
| Abstract : |
| PubMedSearch : Funke_1991_Proc.Natl.Acad.Sci.U.S.A_88_4855 |
| PubMedID: 2052566 |
| Title : Characterization of a lipoprotein lipase class III type defect in hypertriglyceridemic cats - Peritz_1990_Clin.Invest.Med_13_259 |
| Author(s) : Peritz LN , Brunzell JD , Harvey-Clarke C , Pritchard PH , Jones BR , Hayden MR |
| Ref : Clinical Investigation Med , 13 :259 , 1990 |
| Abstract : |
| PubMedSearch : Peritz_1990_Clin.Invest.Med_13_259 |
| PubMedID: 2276220 |
| Title : Hypoalphalipoproteinemia resembling fish eye disease - Frohlich_1987_Acta.Med.Scand_221_291 |
| Author(s) : Frohlich J , Hoag G , McLeod R , Hayden M , Godin DV , Wadsworth LD , Critchley JD , Pritchard PH |
| Ref : Acta Med Scand , 221 :291 , 1987 |
| Abstract : |
| PubMedSearch : Frohlich_1987_Acta.Med.Scand_221_291 |
| PubMedID: 3591467 |