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 gene accompanied by hyposialy lation of skeletal muscle glycoproteins
書誌事項
- タイトル
- 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 gene accompanied by hyposialy lation of skeletal muscle glycoproteins
- 著者
- Saito F.
収録刊行物
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- Neuromusc.Disord. 14
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Neuromusc.Disord. 14 158-161, 2004