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Comparison of the phenotypes of patients harboring in-frame deletions starting at exon 45 in the Duchenne muscular dystrophy gene indicates potential for the development of exon skipping therapy.
Nakamura, Akinori; Shiba, Naoko; Miyazaki, Daigo; Nishizawa, Hitomi; Inaba, Yuji; Fueki, Noboru; Maruyama, Rika; Echigoya, Yusuke; Yokota, Toshifumi.
Afiliação
  • Nakamura A; Third Department of Medicine, Shinshu University School of Medicine, Matsumoto, Japan.
  • Shiba N; Department of Neurology, National Hospital Organization, Matsumoto Medical Center, Matsumoto, Japan.
  • Miyazaki D; Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
  • Nishizawa H; Third Department of Medicine, Shinshu University School of Medicine, Matsumoto, Japan.
  • Inaba Y; School of Health Science, Shinshu University, Matsumoto, Japan.
  • Fueki N; Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
  • Maruyama R; Division of Rehabilitation, Nagano Children's Hospital, Azumino, Japan.
  • Echigoya Y; Department of Medical Genetics, School of Human Development, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, Canada.
  • Yokota T; Department of Medical Genetics, School of Human Development, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, Canada.
J Hum Genet ; 62(4): 459-463, 2017 Apr.
Article em En | MEDLINE | ID: mdl-27974813
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Terapia Genética / Distrofina / Distrofia Muscular de Duchenne Limite: Adolescent / Adult / Aged / Aged80 / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 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: Terapia Genética / Distrofina / Distrofia Muscular de Duchenne Limite: Adolescent / Adult / Aged / Aged80 / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Japão