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A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease.
Tamiya, Gen; Makino, Satoshi; Hayashi, Makiko; Abe, Akiko; Numakura, Chikahiko; Ueki, Masao; Tanaka, Atsushi; Ito, Chizuru; Toshimori, Kiyotaka; Ogawa, Nobuhiro; Terashima, Tomoya; Maegawa, Hiroshi; Yanagisawa, Daijiro; Tooyama, Ikuo; Tada, Masayoshi; Onodera, Osamu; Hayasaka, Kiyoshi.
Afiliación
  • Tamiya G; Advanced Molecular Epidemiology Research Institute, Faculty of Medicine, Yamagata University, Yamagata 990-9585, Japan. Electronic address: gtamiya@genetix-h.com.
  • Makino S; Advanced Molecular Epidemiology Research Institute, Faculty of Medicine, Yamagata University, Yamagata 990-9585, Japan.
  • Hayashi M; Department of Pediatrics, Faculty of Medicine, Yamagata University, Yamagata 990-9585, Japan.
  • Abe A; Department of Pediatrics, Faculty of Medicine, Yamagata University, Yamagata 990-9585, Japan.
  • Numakura C; Department of Pediatrics, Faculty of Medicine, Yamagata University, Yamagata 990-9585, Japan.
  • Ueki M; Advanced Molecular Epidemiology Research Institute, Faculty of Medicine, Yamagata University, Yamagata 990-9585, Japan.
  • Tanaka A; Research Institute of Medical Sciences, Faculty of Medicine, Yamagata University, Yamagata 990-9585, Japan.
  • Ito C; Department of Reproductive Biology and Medicine, Graduate School of Medicine, Chiba University, Chiba 260-8670, Japan.
  • Toshimori K; Department of Reproductive Biology and Medicine, Graduate School of Medicine, Chiba University, Chiba 260-8670, Japan.
  • Ogawa N; Department of Medicine, Shiga University of Medical Science, Otsu 520-2192, Japan.
  • Terashima T; Department of Medicine, Shiga University of Medical Science, Otsu 520-2192, Japan.
  • Maegawa H; Department of Medicine, Shiga University of Medical Science, Otsu 520-2192, Japan.
  • Yanagisawa D; Molecular Neuroscience Research Center, Shiga University of Medical Science, Otsu 520-2192, Japan.
  • Tooyama I; Molecular Neuroscience Research Center, Shiga University of Medical Science, Otsu 520-2192, Japan.
  • Tada M; Department of Molecular Neuroscience, Brain Research Institute, Niigata University, Niigata 951-8585, Japan.
  • Onodera O; Department of Molecular Neuroscience, Brain Research Institute, Niigata University, Niigata 951-8585, Japan.
  • Hayasaka K; Department of Pediatrics, Faculty of Medicine, Yamagata University, Yamagata 990-9585, Japan. Electronic address: hayasaka@med.id.yamagata-u.ac.jp.
Am J Hum Genet ; 95(3): 294-300, 2014 Sep 04.
Article en En | MEDLINE | ID: mdl-25152455
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Axones / Atrofia Muscular / Enfermedad de Charcot-Marie-Tooth / Complejo IV de Transporte de Electrones / Genes Recesivos / Mutación Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Adult / Animals / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2014 Tipo del documento: Article
Texto completo
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XML
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Axones / Atrofia Muscular / Enfermedad de Charcot-Marie-Tooth / Complejo IV de Transporte de Electrones / Genes Recesivos / Mutación Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Adult / Animals / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2014 Tipo del documento: Article