A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site (Q45143231)

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scientific article published in December 2004
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English
A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site
scientific article published in December 2004

    Statements

    A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site (English)
    Stephan Tiede
    Michael Cantz
    Annick Raas-Rothschild
    Nicole Muschol
    Friederike Bürger
    Kurt Ullrich
    Thomas Braulke
    1 December 2004

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