(Q44735412)
Statements
1 reference
A Japanese patient with distal myopathy with rimmed vacuoles: missense mutations in the epimerase domain of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene accompanied by hyposialylation of skeletal muscle glycoproteins (English)
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Saito F
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Tomimitsu H
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Arai K
1 reference
Nakai S
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Kanda T
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Shimizu T
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Mizusawa H
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Matsumura K
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1 February 2004
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14
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2
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158-161
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Identifiers
1 reference
1 reference