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  • Barbara Tappino, Nadia A. Chuzhanova, +12 authors Mirella Filocamo
  • Biology, Medicine
  • Human mutation
  • 2009 (First Publication: 1 November 2009)
  • Mutational analysis of the GNPTAB gene was performed in 46 apparently unrelated patients with mucolipidosis IIalpha/beta or IIIalpha/beta, characterized by the mistargeting of multiple lysosomalExpand
  • Tommaso Beccari, J Hoade, A. Orlacchio, John Laing Stirling
  • Biology, Medicine
  • The Biochemical journal
  • 1992 (First Publication: 15 July 1992)
  • cDNAs encoding the mouse beta-N-acetylhexosaminidase alpha-subunit were isolated from a mouse testis library. The longest of these (1.7 kb) was sequenced and showed 83% similarity with the humanExpand