| Title : Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene - Pisciotta_2009_Mol.Genet.Metab_97_143 |
| Author(s) : Pisciotta L , Fresa R , Bellocchio A , Pino E , Guido V , Cantafora A , Di Rocco M , Calandra S , Bertolini S |
| Ref : Mol Genet Metab , 97 :143 , 2009 |
| Abstract : |
| PubMedSearch : Pisciotta_2009_Mol.Genet.Metab_97_143 |
| PubMedID: 19307143 |
| Gene_locus related to this paper: human-LIPA |
| Title : Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders - Pisciotta_2004_Atherosclerosis_172_309 |
| Author(s) : Pisciotta L , Hamilton-Craig I , Tarugi P , Bellocchio A , Fasano T , Alessandrini P , Bon GB , Siepi D , Mannarino E , Cattin L , Averna M , Cefalu AB , Cantafora A , Calandra S , Bertolini S |
| Ref : Atherosclerosis , 172 :309 , 2004 |
| Abstract : |
| PubMedSearch : Pisciotta_2004_Atherosclerosis_172_309 |
| PubMedID: 15019541 |
| 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 |