Novel missense variants in LCAT and APOB genes in an Italian kindred with familial lecithin:cholesterol acyltransferase deficiency and hypobetalipoproteinemia

Paola Conca, Silvana Pileggi, Sara Simonelli, Emanuela Boer, Giuliano Boscutti, Lucia Magnolo, Patrizia Tarugi, Silvana Penco, Guido Franceschini, Laura Calabresi and Monica Gomaraschi

Journal of Clinical Lipidology 6 ( 3 ): 244 - 250 , 2012