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Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan.
Katata, Yu; Uematsu, Mitsugu; Sato, Hiroki; Suzuki, Sato; Nakayama, Tojo; Kubota, Yuki; Kobayashi, Tomoko; Hino-Fukuyo, Naomi; Saitsu, Hirotomo; Kure, Shigeo.
Afiliação
  • Katata Y; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Miyagi, Japan.
  • Uematsu M; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Miyagi, Japan. Electronic address: uematsu@bk9.so-net.ne.jp.
  • Sato H; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Miyagi, Japan.
  • Suzuki S; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Miyagi, Japan.
  • Nakayama T; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Miyagi, Japan.
  • Kubota Y; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Miyagi, Japan.
  • Kobayashi T; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Miyagi, Japan.
  • Hino-Fukuyo N; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Miyagi, Japan.
  • Saitsu H; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
  • Kure S; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Miyagi, Japan.
Brain Dev ; 38(3): 341-5, 2016 Mar.
Article em En | MEDLINE | ID: mdl-26443629
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Membrana / Lipofuscinoses Ceroides Neuronais Tipo de estudo: Prognostic_studies Limite: Child / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Brain Dev Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Japão
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Membrana / Lipofuscinoses Ceroides Neuronais Tipo de estudo: Prognostic_studies Limite: Child / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Brain Dev Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Japão