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Juvenile-onset neuronal ceroid lipofuscinosis (CLN1) disease with a novel deletion and duplication in the PPT1 gene.
Ozono, Tatsuhiko; Kinoshita, Makoto; Narita, Aya; Hirakiyama, Asami; Kosuga, Motomichi; Okuyama, Torayuki; Fukada, Kei.
Afiliación
  • Ozono T; Department of Neurology, Osaka General Medical Center, 3-1-56, Mandai-higashi, Sumiyosh-ku, Osaka 558-8558, Japan. Electronic address: t_ozono@neurol.med.osaka-u.ac.jp.
  • Kinoshita M; Department of Neurology, Osaka General Medical Center, 3-1-56, Mandai-higashi, Sumiyosh-ku, Osaka 558-8558, Japan. Electronic address: kinoshita@gh.opho.jp.
  • Narita A; Department of Child Neurology, Faculty of Medicine, Tottori University, 36-1 Nishi-cho, Yonago city, Tottori 683-8504, Japan. Electronic address: aya.luce@nifty.com.
  • Hirakiyama A; Department of Clinical Laboratory Medicine, National Center for Child Health and Development, 2-10-1, Okura, Setagaya-ku, Tokyo 157-8535, Japan. Electronic address: hirakiyama-a@ncchd.go.jp.
  • Kosuga M; Department of Clinical Laboratory Medicine, National Center for Child Health and Development, 2-10-1, Okura, Setagaya-ku, Tokyo 157-8535, Japan. Electronic address: kosuga-mo@ncchd.go.jp.
  • Okuyama T; Department of Clinical Laboratory Medicine, National Center for Child Health and Development, 2-10-1, Okura, Setagaya-ku, Tokyo 157-8535, Japan. Electronic address: okuyama-t@ncchd.go.jp.
  • Fukada K; Department of Neurology, Osaka General Medical Center, 3-1-56, Mandai-higashi, Sumiyosh-ku, Osaka 558-8558, Japan. Electronic address: fukada@gh.opho.jp.
J Neurol Sci ; 388: 4-6, 2018 05 15.
Article en En | MEDLINE | ID: mdl-29627028
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Tioléster Hidrolasas / Eliminación de Secuencia / Duplicación de Gen / Proteínas de la Membrana / Lipofuscinosis Ceroideas Neuronales Límite: Adult / Female / Humans Idioma: En Revista: J Neurol Sci Año: 2018 Tipo del documento: Article Pais de publicación: Países Bajos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Tioléster Hidrolasas / Eliminación de Secuencia / Duplicación de Gen / Proteínas de la Membrana / Lipofuscinosis Ceroideas Neuronales Límite: Adult / Female / Humans Idioma: En Revista: J Neurol Sci Año: 2018 Tipo del documento: Article Pais de publicación: Países Bajos