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A rapid screening with direct sequencing from blood samples for the diagnosis of Leigh syndrome.
Shimbo, Hiroko; Takagi, Mariko; Okuda, Mitsuko; Tsuyusaki, Yu; Takano, Kyoko; Iai, Mizue; Yamashita, Sumimasa; Murayama, Kei; Ohtake, Akira; Goto, Yu-Ichi; Aida, Noriko; Osaka, Hitoshi.
Affiliation
  • Shimbo H; Division of Neurology, Kanagawa Children's Medical Center, 2-138-4 Mutsukawa, Minami-ku, Yokohama, Kanagawa 232-8555, Japan.
  • Takagi M; Division of Neurology, Kanagawa Children's Medical Center, 2-138-4 Mutsukawa, Minami-ku, Yokohama, Kanagawa 232-8555, Japan.
  • Okuda M; Division of Neurology, Kanagawa Children's Medical Center, 2-138-4 Mutsukawa, Minami-ku, Yokohama, Kanagawa 232-8555, Japan.
  • Tsuyusaki Y; Division of Neurology, Kanagawa Children's Medical Center, 2-138-4 Mutsukawa, Minami-ku, Yokohama, Kanagawa 232-8555, Japan.
  • Takano K; Division of Neurology, Kanagawa Children's Medical Center, 2-138-4 Mutsukawa, Minami-ku, Yokohama, Kanagawa 232-8555, Japan.
  • Iai M; Division of Neurology, Kanagawa Children's Medical Center, 2-138-4 Mutsukawa, Minami-ku, Yokohama, Kanagawa 232-8555, Japan.
  • Yamashita S; Division of Neurology, Kanagawa Children's Medical Center, 2-138-4 Mutsukawa, Minami-ku, Yokohama, Kanagawa 232-8555, Japan.
  • Murayama K; Department of Metabolism, Chiba Children's Hospital, 579-1, Heta-cho, Midori-ku, Chiba-shi, Chiba 266-0007, Japan.
  • Ohtake A; Department of Pediatrics, Faculty of Medicine, Saitama Medical University, 38 Morohongo, Moroyama, Iruma-gun, Saitama 350-0495, Japan.
  • Goto YI; Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-machi, Kodaira-shi, Tokyo 187-8551, Japan.
  • Aida N; Division of Radiology, Kanagawa Children's Medical Center, 2-138-4 Mutsukawa, Minami-ku, Yokohama, Kanagawa 232-8555, Japan.
  • Osaka H; Division of Neurology, Kanagawa Children's Medical Center, 2-138-4 Mutsukawa, Minami-ku, Yokohama, Kanagawa 232-8555, Japan; Department of Pediatrics, Jichi Medical School, 3311-1 Yakushiji, Shimotsuke-shi, Tochigi 329-0498, Japan.
Mol Genet Metab Rep ; 1: 133-138, 2014.
Article in En | MEDLINE | ID: mdl-27896082
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Diagnostic_studies / Screening_studies Language: En Journal: Mol Genet Metab Rep Year: 2014 Document type: Article Affiliation country: Japón Country of publication: Estados Unidos
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Diagnostic_studies / Screening_studies Language: En Journal: Mol Genet Metab Rep Year: 2014 Document type: Article Affiliation country: Japón Country of publication: Estados Unidos