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

Bibliographic Information

Title
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
Author
Saito F.

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Details 詳細情報について

  • CRID
    1010000781876833024
  • Article Type
    journal article
  • Data Source
    • KAKEN

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