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A common mutation and a novel mutation in Japanese patients with van der Knaap disease.
Tsujino, Seiichi; Kanazawa, Naomi; Yoneyama, Hitoshi; Shimono, Masayuki; Kawakami, Akihiro; Hatanaka, Yuuki; Shimizu, Teruo; Oba, Hiroshi.
Afiliação
  • Tsujino S; Department of Inherited Metabolic Disease, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1, Ogawahigashi, Kodaira, Tokyo 187-8502, Japan. tsujino@ncnp.go.jp.
  • Kanazawa N; Department of Inherited Metabolic Disease, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1, Ogawahigashi, Kodaira, Tokyo 187-8502, Japan.
  • Yoneyama H; Department of Pediatrics, Kitakyushu Rehabilitation Center for Children with Disabilities, Kitakyushu, Japan.
  • Shimono M; Department of Pediatrics, University of Occupational and Environmental Health, Kitakyushu, Japan.
  • Kawakami A; Department of Pediatrics, University of Occupational and Environmental Health, Kitakyushu, Japan.
  • Hatanaka Y; Department of Neurology, Teikyo University School of Medicine, Tokyo, Japan.
  • Shimizu T; Department of Neurology, Teikyo University School of Medicine, Tokyo, Japan.
  • Oba H; Department of Radiology, Teikyo University School of Medicine, Tokyo, Japan.
J Hum Genet ; 48(12): 605-608, 2003.
Article em En | MEDLINE | ID: mdl-14615938
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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Encefalopatias / Proteínas de Membrana / Mutação Limite: Adult / Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2003 Tipo de documento: Article País de afiliação: Japão
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Encefalopatias / Proteínas de Membrana / Mutação Limite: Adult / Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2003 Tipo de documento: Article País de afiliação: Japão