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First Japanese case of Zellweger syndrome with a mutation in PEX14.
Komatsuzaki, Shoko; Ogawa, Eishin; Shimozawa, Nobuyuki; Sakamoto, Osamu; Haginoya, Kazuhiro; Uematsu, Mitsugu; Hasegawa, Yuki; Matsubara, Yoichi; Ohura, Toshihiro.
Afiliação
  • Komatsuzaki S; Department of Medical Genetics.
  • Ogawa E; Department of Pediatrics, Tohoku University School of Medicine, Sendai.
  • Shimozawa N; Division of Inborn Metabolic Diseases, University Children's Hospital Heidelberg, Heidelberg, Germany.
  • Sakamoto O; Department of Pediatrics, Tohoku University School of Medicine, Sendai.
  • Haginoya K; Division of Genomics Research, Life Science Research Center, Gifu University, Gifu.
  • Uematsu M; Department of Pediatrics, Tohoku University School of Medicine, Sendai.
  • Hasegawa Y; Department of Pediatrics, Tohoku University School of Medicine, Sendai.
  • Matsubara Y; Department of Pediatrics, Tohoku University School of Medicine, Sendai.
  • Ohura T; Department of Pediatrics, Shimane University School of Medicine, Izumo, Japan.
Pediatr Int ; 57(6): 1189-92, 2015 Dec.
Article em En | MEDLINE | ID: mdl-26627464
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Repressoras / DNA / Síndrome de Zellweger / Proteínas de Membrana / Mutação Limite: Humans / Male / Newborn País/Região como assunto: Asia Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Repressoras / DNA / Síndrome de Zellweger / Proteínas de Membrana / Mutação Limite: Humans / Male / Newborn País/Região como assunto: Asia Idioma: En Ano de publicação: 2015 Tipo de documento: Article