(Q45143231)
Statements
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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)
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Stephan Tiede
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Michael Cantz
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Annick Raas-Rothschild
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Nicole Muschol
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Friederike Bürger
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Kurt Ullrich
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Thomas Braulke
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1 December 2004
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24
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6
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535
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Identifiers
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1 reference