(Q47330247)
Statements
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Missense mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTA) in a patient with mucolipidosis II induces changes in the size and cellular distribution of GNPTG. (English)
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Stephan Tiede
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Michael Cantz
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Jürgen Spranger
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Thomas Braulke
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1 August 2006
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27
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830-831
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8
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Identifiers
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1 reference