Analysis of mucolipidosis II/III GNPTAB missense mutations identifies domains of UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase involved in catalytic function and lysosomal enzyme recognition

Yi Qian, Eline Van Meel, Heather Flanagan-Steet, Alex Yox, Richard Steet, Stuart Kornfeld

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32 Scopus citations

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Medicine & Life Sciences

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