Title : The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families - Calabresi_2005_Arterioscler.Thromb.Vasc.Biol_25_1972 |
Author(s) : Calabresi L , Pisciotta L , Costantin A , Frigerio I , Eberini I , Alessandrini P , Arca M , Bon GB , Boscutti G , Busnach G , Frasca 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 |
Ref : Arterioscler Thromb Vasc Biol , 25 :1972 , 2005 |
Abstract : |
PubMedSearch : Calabresi_2005_Arterioscler.Thromb.Vasc.Biol_25_1972 |
PubMedID: 15994445 |
Title : Hypocomplementemic type II membranoproliferative glomerulonephritis in a male patient with familial lecithin-cholesterol acyltransferase deficiency due to two different allelic mutations - Sessa_2001_Nephron_88_268 |
Author(s) : Sessa A , Battini G , Meroni M , Daidone G , Carnera I , Brambilla PL , Vigano G , Giordano F , Pallotti F , Torri Tarelli L , Calabresi L , Rolleri M , Bertolini S |
Ref : Nephron , 88 :268 , 2001 |
Abstract : |
PubMedSearch : Sessa_2001_Nephron_88_268 |
PubMedID: 11423760 |
Title : Pseudodominance of lipoprotein lipase (LPL) deficiency due to a nonsense mutation (Tyr302>Term) in exon 6 of LPL gene in an Italian family from Sardinia (LPL(Olbia)) - Bertolini_2000_Clin.Genet_57_140 |
Author(s) : Bertolini S , Simone ML , Pes GM , Ghisellini M , Rolleri M , Bellocchio A , Elicio N , Masturzo P , Calandra S |
Ref : Clin Genet , 57 :140 , 2000 |
Abstract : |
PubMedSearch : Bertolini_2000_Clin.Genet_57_140 |
PubMedID: 10735636 |
Gene_locus related to this paper: human-LPL |