| Title : New mutations in the PPBG gene lead to loss of PPCA protein which affects the level of the beta-galactosidase\/neuraminidase complex and the EBP-receptor - Malvagia_2004_Mol.Genet.Metab_82_48 |
| Author(s) : Malvagia S , Morrone A , Caciotti A , Bardelli T , d'Azzo A , Ancora G , Zammarchi E , Donati MA |
| Ref : Mol Genet Metab , 82 :48 , 2004 |
| Abstract : |
| PubMedSearch : Malvagia_2004_Mol.Genet.Metab_82_48 |
| PubMedID: 15110321 |
| Gene_locus related to this paper: human-CTSA |