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Identification of extremely rare mitochondrial disorders by whole exome sequencing.
Seo, Go Hun; Oh, Arum; Kim, Eun Na; Lee, Yeonmi; Park, Jumi; Kim, Taeho; Lim, Young-Min; Kim, Gu-Hwan; Kim, Chong Jai; Yoo, Han-Wook; Kang, Eunju; Lee, Beom Hee.
Afiliação
  • Seo GH; Department of Pediatrics, ASAN Institute for Life Sciences, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
  • Oh A; Department of Pediatrics, ASAN Institute for Life Sciences, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
  • Kim EN; Department of Pathology, ASAN Institute for Life Sciences, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
  • Lee Y; Asan Medical Center Children's Hospital, Stem Cell Center, ASAN Institute for Life Sciences, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
  • Park J; Asan Medical Center Children's Hospital, Stem Cell Center, ASAN Institute for Life Sciences, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
  • Kim T; Biomedical Research Center, ASAN Institute for Life Sciences, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
  • Lim YM; Department of Neurology, ASAN Institute for Life Sciences, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
  • Kim GH; Medical Genetics Center, ASAN Institute for Life Sciences, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
  • Kim CJ; Department of Pathology, ASAN Institute for Life Sciences, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
  • Yoo HW; Department of Pediatrics, ASAN Institute for Life Sciences, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
  • Kang E; Medical Genetics Center, ASAN Institute for Life Sciences, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
  • Lee BH; Asan Medical Center Children's Hospital, Stem Cell Center, ASAN Institute for Life Sciences, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea. kangeun@amc.seoul.kr.
J Hum Genet ; 64(11): 1117-1125, 2019 Nov.
Article em En | MEDLINE | ID: mdl-31451716
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fatores de Alongamento de Peptídeos / Proteínas de Ligação a RNA / Doenças Mitocondriais / Proteínas Mitocondriais / Doenças Raras / Alanina-tRNA Ligase Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Child / Humans / Male Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fatores de Alongamento de Peptídeos / Proteínas de Ligação a RNA / Doenças Mitocondriais / Proteínas Mitocondriais / Doenças Raras / Alanina-tRNA Ligase Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Child / Humans / Male Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article