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Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes.
Lee, Jin Sook; Yoo, Taekyeong; Lee, Moses; Lee, Youngha; Jeon, Eunyoung; Kim, Soo Yeon; Lim, Byung Chan; Kim, Ki Joong; Choi, Murim; Chae, Jong-Hee.
Affiliation
  • Lee JS; Department of Pediatrics, Department of Genome Medicine and Science, Gil Medical Center, Gachon University College of Medicine, Incheon, Korea.
  • Yoo T; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea.
  • Lee M; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea.
  • Lee Y; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea.
  • Jeon E; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea.
  • Kim SY; Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.
  • Lim BC; Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.
  • Kim KJ; Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.
  • Choi M; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea.
  • Chae JH; Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.
Clin Genet ; 97(4): 586-594, 2020 04.
Article in En | MEDLINE | ID: mdl-32020600

Full text: 1 Database: MEDLINE Main subject: Proteins / Leigh Disease / Genetic Heterogeneity / Racemases and Epimerases / Mitochondrial Diseases Type of study: Etiology_studies / Prognostic_studies Limits: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Clin Genet Year: 2020 Type: Article

Full text: 1 Database: MEDLINE Main subject: Proteins / Leigh Disease / Genetic Heterogeneity / Racemases and Epimerases / Mitochondrial Diseases Type of study: Etiology_studies / Prognostic_studies Limits: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Clin Genet Year: 2020 Type: Article