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Diagnosis and molecular basis of mitochondrial respiratory chain disorders: exome sequencing for disease gene identification.
Ohtake, A; Murayama, K; Mori, M; Harashima, H; Yamazaki, T; Tamaru, S; Yamashita, Y; Kishita, Y; Nakachi, Y; Kohda, M; Tokuzawa, Y; Mizuno, Y; Moriyama, Y; Kato, H; Okazaki, Y.
Afiliação
  • Ohtake A; Department of Pediatrics, Faculty of Medicine, Saitama Medical University, Saitama 350-0495, Japan. Electronic address: akira_oh@saitama-med.ac.jp.
  • Murayama K; Department of Metabolism, Chiba Children's Hospital, Chiba 266-0007, Japan.
  • Mori M; Department of Pediatrics, Jichi Medical University, Tochigi 329-0498, Japan.
  • Harashima H; Department of Pediatrics, Faculty of Medicine, Saitama Medical University, Saitama 350-0495, Japan.
  • Yamazaki T; Department of Pediatrics, Faculty of Medicine, Saitama Medical University, Saitama 350-0495, Japan.
  • Tamaru S; Research Center for Genomic Medicine, Saitama Medical University, Saitama 350-0495, Japan.
  • Yamashita Y; Research Center for Genomic Medicine, Saitama Medical University, Saitama 350-0495, Japan.
  • Kishita Y; Research Center for Genomic Medicine, Saitama Medical University, Saitama 350-0495, Japan.
  • Nakachi Y; Research Center for Genomic Medicine, Saitama Medical University, Saitama 350-0495, Japan.
  • Kohda M; Research Center for Genomic Medicine, Saitama Medical University, Saitama 350-0495, Japan.
  • Tokuzawa Y; Research Center for Genomic Medicine, Saitama Medical University, Saitama 350-0495, Japan.
  • Mizuno Y; Research Center for Genomic Medicine, Saitama Medical University, Saitama 350-0495, Japan.
  • Moriyama Y; Research Center for Genomic Medicine, Saitama Medical University, Saitama 350-0495, Japan.
  • Kato H; Research Center for Genomic Medicine, Saitama Medical University, Saitama 350-0495, Japan.
  • Okazaki Y; Research Center for Genomic Medicine, Saitama Medical University, Saitama 350-0495, Japan.
Biochim Biophys Acta ; 1840(4): 1355-9, 2014 Apr.
Article em En | MEDLINE | ID: mdl-24462578

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Doenças Mitocondriais / Exoma Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2014 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Doenças Mitocondriais / Exoma Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2014 Tipo de documento: Article