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SMA mutations in SMN Tudor and C-terminal domains destabilize the protein.
Takarada, Toru; Ar Rochmah, Mawaddah; Harahap, Nur Imma Fatimah; Shinohara, Masakazu; Saito, Toshio; Saito, Kayoko; Lai, Poh San; Bouike, Yoshihiro; Takeshima, Yasuhiro; Awano, Hiroyuki; Morioka, Ichiro; Iijima, Kazumoto; Nishio, Hisahide; Takeuchi, Atsuko.
Afiliação
  • Takarada T; Analytical Laboratory, Kobe Pharmaceutical University, Kobe, Japan.
  • Ar Rochmah M; Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Harahap NIF; Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Shinohara M; Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Saito T; Department of Neurology, Toneyama National Hospital, Osaka, Japan.
  • Saito K; Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.
  • Lai PS; Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.
  • Bouike Y; Faculty of Nutrition, Kobe Gakuin University, Kobe, Japan.
  • Takeshima Y; Department of Pediatrics, Hyogo College of Medicine, Nishinomiya, Japan.
  • Awano H; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Morioka I; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Iijima K; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Nishio H; Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, Kobe, Japan; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan. Electronic address: nishio@med.kobe-u.ac.jp.
  • Takeuchi A; Analytical Laboratory, Kobe Pharmaceutical University, Kobe, Japan.
Brain Dev ; 39(7): 606-612, 2017 Aug.
Article em En | MEDLINE | ID: mdl-28366534
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteína 1 de Sobrevivência do Neurônio Motor / Mutação Tipo de estudo: Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Brain Dev Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Japão
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteína 1 de Sobrevivência do Neurônio Motor / Mutação Tipo de estudo: Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Brain Dev Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Japão