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A novel missense variant (Gln220Arg) of GNB4 encoding guanine nucleotide-binding protein, subunit beta-4 in a Japanese family with autosomal dominant motor and sensory neuropathy.
Miura, Shiroh; Morikawa, Takuya; Fujioka, Ryuta; Noda, Kazuhito; Kosaka, Kengo; Taniwaki, Takayuki; Shibata, Hiroki.
Afiliación
  • Miura S; Division of Respirology, Neurology and Rheumatology, Department of Medicine, Kurume University School of Medicine, Kurume, 830-0011, Japan. Electronic address: shiroh46@med.kurume-u.ac.jp.
  • Morikawa T; Division of Genomics, Medical Institute of Bioregulation, Kyushu University, Fukuoka, 812-8582, Japan.
  • Fujioka R; Department of Food and Nutrition, Beppu University Junior College, Beppu, 874-8501, Japan.
  • Noda K; Department of Neurology, Fukuoka Saiseikai Futsukaichi Hospital, Chikushino, 818-8516, Japan.
  • Kosaka K; Division of Genomics, Medical Institute of Bioregulation, Kyushu University, Fukuoka, 812-8582, Japan.
  • Taniwaki T; Division of Respirology, Neurology and Rheumatology, Department of Medicine, Kurume University School of Medicine, Kurume, 830-0011, Japan.
  • Shibata H; Division of Genomics, Medical Institute of Bioregulation, Kyushu University, Fukuoka, 812-8582, Japan.
Eur J Med Genet ; 60(9): 474-478, 2017 Sep.
Article en En | MEDLINE | ID: mdl-28642160
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth / Mutación Missense / Subunidades beta de la Proteína de Unión al GTP Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Aged80 / Humans / Male / Middle aged País/Región como asunto: Asia Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth / Mutación Missense / Subunidades beta de la Proteína de Unión al GTP Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Aged80 / Humans / Male / Middle aged País/Región como asunto: Asia Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article