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The first Korean cases of combined oxidative phosphorylation deficiency 35 with two novel TRIT1 mutations in two siblings confirmed by clinical and molecular investigation.
Yoo, Sukdong; Kim, Young A; Yoon, Ju Young; Seo, Go Hun; Keum, Changwon; Cheon, Chong Kun.
Afiliación
  • Yoo S; Department of Pediatrics, Pusan National University School of Medicine, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University, Yangsan Hospital, Republic of Korea.
  • Kim YA; Department of Pediatrics, Pusan National University School of Medicine, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University, Yangsan Hospital, Republic of Korea.
  • Yoon JY; Department of Pediatrics, Pusan National University School of Medicine, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University, Yangsan Hospital, Republic of Korea.
  • Seo GH; 3Billion, Inc., Seoul, Republic of Korea.
  • Keum C; 3Billion, Inc., Seoul, Republic of Korea.
  • Cheon CK; Department of Pediatrics, Pusan National University School of Medicine, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University, Yangsan Hospital, Republic of Korea. Electronic address: chongkun@pusan.ac.kr.
Brain Dev ; 43(2): 325-330, 2021 Feb.
Article en En | MEDLINE | ID: mdl-32948376
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Transferasas Alquil y Aril / Enfermedades Mitocondriales Límite: Adolescent / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Brain Dev Año: 2021 Tipo del documento: Article Pais de publicación: Países Bajos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Transferasas Alquil y Aril / Enfermedades Mitocondriales Límite: Adolescent / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Brain Dev Año: 2021 Tipo del documento: Article Pais de publicación: Países Bajos