The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families.

doi:10.1161/01.ATV.0000175751.30616.13

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Article

The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families.

Arteriosclerosis, thrombosis, and vascular biology - 1 Sept 2005

Calabresi Laura, Pisciotta Livia, Costantin Anna, Frigerio Ilaria, Eberini Ivano, Alessandrini Paola, Arca Marcello, Bon Gabriele Bittolo, Boscutti Giuliano, Busnach Ghil, Frascà Giovanni, Gesualdo Loreto, Gigante Maddalena, Lupattelli Graziana, Montali Anna, Pizzolitto Stefano, Rabbone Ivana, Rolleri Marina, Ruotolo Giacomo, Sampietro Tiziana, Sessa Adalberto, Vaudo Gaetano, Cantafora Alfredo, Veglia Fabrizio, Calandra Sebastiano, Bertolini Stefano, Franceschini Guido

Abstract excerpt

OBJECTIVE: To better understand the role of lecithin:cholesterol acyltransferase (LCAT) in lipoprotein metabolism through the genetic and biochemical characterization of families carrying mutations in the LCAT gene. METHODS AND RESULTS: Thirteen families carrying 17 different mutations in the LCAT gene were identified by Lipid Clinics and Departments of Nephrology throughout Italy. DNA analysis of 82 family...

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PMID: 15994445
DOI: 10.1161/01.ATV.0000175751.30616.13

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LCAT

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