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

@article{Calabresi2005TheMB,
  title={The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families.},
  author={Laura Calabresi and Livia Pisciotta and Anna Costantin and Ilaria Frigerio and Ivano Eberini and Paola Alessandrini and Marcello Arca and Gabriele Bittolo Bon and Giuliano Boscutti and Ghil Busnach and Giovanni Maria Frasc{\'a} and Loreto Gesualdo and M Gigante and Graziana Lupattelli and Anna Montali and Stefano Pizzolitto and Ivana Rabbone and Marina Rolleri and Giacomo Ruotolo and Tiziana Sampietro and Adalberto Sessa and Gaetano Vaudo and Alfredo Cant{\`a}fora and Fabrizio Veglia and Sebastiano Calandra and Stefano Bertolini and Guido Franceschini},
  journal={Arteriosclerosis, thrombosis, and vascular biology},
  year={2005},
  volume={25 9},
  pages={1972-8}
}
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 members identified 15 carriers of 2 mutant LCAT alleles, 11 with familial LCAT… CONTINUE READING