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5. The P274S Mutation of Lecithin-Cholesterol Acyltransferase (LCAT) and Its Clinical Manifestations in a Large Kindred. Fountoulakis N; Lioudaki E; Lygerou D; Dermitzaki EK; Papakitsou I; Kounali V; Holleboom AG; Stratigis S; Belogianni C; Syngelaki P; Stratakis S; Evangeliou A; Gakiopoulou H; Kuivenhoven JA; Wevers R; Dafnis E; Stylianou K Am J Kidney Dis; 2019 Oct; 74(4):510-522. PubMed ID: 31103331 [TBL] [Abstract][Full Text] [Related]
6. A novel pathogenic variant in LCAT causing FLD. A case report. Goñi Ros N; González-Tarancón R; Sienes Bailo P; Salvador-Ruperez E; Puzo Bayod M; Puzo Foncillas J Acta Clin Belg; 2022 Dec; 77(6):970-975. PubMed ID: 34789074 [TBL] [Abstract][Full Text] [Related]
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8. In vitro expression of natural mutants of human lecithin:cholesterol acyltransferase. Qu SJ; Fan HZ; Blanco-Vaca F; Pownall HJ J Lipid Res; 1995 May; 36(5):967-74. PubMed ID: 7658168 [TBL] [Abstract][Full Text] [Related]
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10. The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families. Calabresi L; Pisciotta L; Costantin A; Frigerio I; Eberini I; Alessandrini P; Arca M; Bon GB; Boscutti G; Busnach G; Frascà G; Gesualdo L; Gigante M; Lupattelli G; Montali A; Pizzolitto S; Rabbone I; Rolleri M; Ruotolo G; Sampietro T; Sessa A; Vaudo G; Cantafora A; Veglia F; Calandra S; Bertolini S; Franceschini G Arterioscler Thromb Vasc Biol; 2005 Sep; 25(9):1972-8. PubMed ID: 15994445 [TBL] [Abstract][Full Text] [Related]
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