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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 : Malvagia_2004_Mol.Genet.Metab_82_48 |
ESTHER : Malvagia_2004_Mol.Genet.Metab_82_48 |
PubMedSearch : Malvagia_2004_Mol.Genet.Metab_82_48 |
PubMedID: 15110321 |
Gene_locus related to this paper: human-CTSA |