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Intronic variant in IQGAP3 associated with hereditary neuropathy with proximal lower dominancy, urinary disturbance, and paroxysmal dry cough.
Miura, Shiroh; Kosaka, Kengo; Shimojo, Tomofumi; Matsuura, Eiji; Noda, Kazuhito; Fujioka, Ryuta; Mori, Shin-Ichiro; Umehara, Fujio; Iwaki, Toru; Yamamoto, Ken; Saitsu, Hirotomo; Shibata, Hiroki.
Afiliación
  • Miura S; Department of Neurology and Geriatric Medicine, Ehime University Graduate School of Medicine, Toon, 790-0295, Japan.
  • Kosaka K; Division of Genomics, Medical Institute of Bioregulation, Kyushu University, Fukuoka, 812-8582, Japan.
  • Shimojo T; Division of Respirology, Neurology and Rheumatology, Department of Medicine, Kurume University School of Medicine, Kurume, 830-0011, Japan.
  • Matsuura E; Division of Genomics, Medical Institute of Bioregulation, Kyushu University, Fukuoka, 812-8582, Japan.
  • Noda K; Division of Genomics, Medical Institute of Bioregulation, Kyushu University, Fukuoka, 812-8582, Japan.
  • Fujioka R; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, 890-0065, Japan.
  • Mori SI; Nodakousei Clinic, Ogi, 845-0013, Japan.
  • Umehara F; Department of Food and Nutrition, Beppu University Junior College, Beppu, 874-8501, Japan.
  • Iwaki T; Division of Respirology, Neurology and Rheumatology, Department of Medicine, Kurume University School of Medicine, Kurume, 830-0011, Japan.
  • Yamamoto K; Department of Neuropathology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, 812-8582, Japan.
  • Saitsu H; Department of Neurology, Nanpuh Hospital, Kagoshima, 892-8582, Japan.
  • Shibata H; Department of Neuropathology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, 812-8582, Japan.
J Hum Genet ; 65(9): 717-725, 2020 Sep.
Article en En | MEDLINE | ID: mdl-32341455
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Nervio Sural / Enfermedades Urológicas / Intrones / Enfermedades del Sistema Nervioso Periférico / Tos / Proteínas Activadoras de GTPasa Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Japón
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Nervio Sural / Enfermedades Urológicas / Intrones / Enfermedades del Sistema Nervioso Periférico / Tos / Proteínas Activadoras de GTPasa Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Japón