New mutations in the PPBG gene lead to loss of PPCA protein which affects the level of the β-galactosidase/neuraminidase complex and the EBP-receptor

✍ Scribed by Sabrina Malvagia; Amelia Morrone; Anna Caciotti; Tiziana Bardelli; Alessandra d’Azzo; Gina Ancora; Enrico Zammarchi; Maria Alice Donati

• Book ID: 116987491
• Publisher: Elsevier Science
• Year: 2004
• Tongue: English
• Weight: 752 KB
• Volume: 82
• Category: Article
• ISSN: 1096-7192
• DOI: 10.1016/j.ymgme.2004.02.007