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Identification of a novel splicing mutation in the SLC25A13 gene from a patient with NICCD: a case report.
Zhang, Linlin; Li, Yingying; Shi, Wenli; Gao, Jinshuang; Tian, Yuan; Li, Ying; Guo, Yaqing; Cui, Shihong; Zhang, Xiaoan.
Afiliación
  • Zhang L; Department of Clinical Laboratory, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, Henan Province, China.
  • Li Y; International Joint Research Laboratory for US-China Prenatal Medicine Of Henan, Zhengzhou, China.
  • Shi W; Department of Clinical Laboratory, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, Henan Province, China.
  • Gao J; Department of Obstetrics and Gynecology, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, Henan Province, China.
  • Tian Y; Department of Clinical Laboratory, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, Henan Province, China.
  • Li Y; International Joint Research Laboratory for US-China Prenatal Medicine Of Henan, Zhengzhou, China.
  • Guo Y; Department of Clinical Laboratory, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, Henan Province, China.
  • Cui S; International Joint Research Laboratory for US-China Prenatal Medicine Of Henan, Zhengzhou, China.
  • Zhang X; Department of Clinical Laboratory, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, Henan Province, China.
BMC Pediatr ; 19(1): 348, 2019 10 13.
Article en En | MEDLINE | ID: mdl-31607264
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas de Unión al Calcio / Transportadores de Anión Orgánico / Proteínas de Transporte de Membrana Mitocondrial / Ictericia / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Infant Idioma: En Revista: BMC Pediatr Asunto de la revista: PEDIATRIA Año: 2019 Tipo del documento: Article País de afiliación: China
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas de Unión al Calcio / Transportadores de Anión Orgánico / Proteínas de Transporte de Membrana Mitocondrial / Ictericia / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Infant Idioma: En Revista: BMC Pediatr Asunto de la revista: PEDIATRIA Año: 2019 Tipo del documento: Article País de afiliación: China