Novel nonsense mutation (R194X) in the PMM2 gene in a Japanese patient with congenital disorder of glycosylation type Ia

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概要

• 論文の詳細を見る
• 2003-10-14

著者

• OHNO Kousaku

  Department of Child Neurology, Institute of Neurological Sciences, Tottori University Faculty of Med

• ONO Hiroaki

  Department of Liberal Arts, Osaka Technical College

• Yuasa Isao

  Department of Legal Medicine, Tottori University School of Medicine

• Yuasa Isao

  Department Of Legal Medicine Tottori University Faculty Of Medicine

• Ohno Kousaku

  Department Of Child Neurology Institute Of Neurological Sciences Faculty Of Medicine Tottori Univers

• Ohno Kousaku

  Department Of Child Neurology Institute Of Neurological Sciences Tottori University Faculty Of Medic

• SAKURA NOBUO

  Department of Pediatrics, Hiroshima University School of Medicine

• YAMASHITA Katsuko

  Department of Biochemistry, Sasaki Institute

• Ono Hiroaki

  Department Of Pediatrics Hiroshima University Graduate School Of Biomedical Sciences

• Yuasa Isao

  Department Of Legal Medicine Faculty Of Medicine Tottori University

• Yamashita Katsuko

  Department Biochemistry Sasaki Institute

• Ono Hiroaki

  Department Of Liberal Arts And Science Setsunan University

• Sakura Nobuo

  Department Of Pediatrics Faculty Of Medicine Hiroshima University

• YUASA Isao

  Department of Legal Medicine, Tottori University Faculty of Medicine

• Ono Hiroaki

  Department of Chemistry, Faculty of Science, Hiroshima University

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