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A Japanese CADASIL patient with homozygous NOTCH3 p.Arg544Cys mutation confirmed pathologically.
Mukai, Mao; Mizuta, Ikuko; Ueda, Akihiko; Nakashima, Daisuke; Kushimura, Yukie; Noto, Yu-Ichi; Ohara, Tomoyuki; Itoh, Kyoko; Ando, Yukio; Mizuno, Toshiki.
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  • Mukai M; Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.
  • Mizuta I; Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.
  • Ueda A; Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.
  • Nakashima D; Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.
  • Kushimura Y; Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.
  • Noto YI; Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.
  • Ohara T; Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.
  • Itoh K; Department of Pathology and Applied Neurobiology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.
  • Ando Y; Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.
  • Mizuno T; Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.. Electronic address: mizuno@koto.kpu-m.ac.jp.
J Neurol Sci ; 394: 38-40, 2018 11 15.
Article en En | MEDLINE | ID: mdl-30199759
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Arginina / Cisteína / CADASIL / Receptor Notch3 / Mutación Límite: Humans / Male / Middle aged Idioma: En Revista: J Neurol Sci Año: 2018 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Países Bajos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Arginina / Cisteína / CADASIL / Receptor Notch3 / Mutación Límite: Humans / Male / Middle aged Idioma: En Revista: J Neurol Sci Año: 2018 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Países Bajos