著者名,論文名,雑誌名,ISSN,出版者名,出版日付,巻,号,ページ,URL,URL(DOI)
,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,Neuromusc.Disord. 14,,,2004,,,158-161,https://cir.nii.ac.jp/crid/1010000781876833024,