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A mitochondrial neurogastrointestinal encephalomyopathy with intestinal pseudo-obstruction resulted from a novel splice site mutation.
Erdogan, Mehmet A; Seckin, Yuksel; Harputluoglu, Muhsin M; Karincaoglu, Melih; Aladag, Murat; Caliskan, Ali R; Bilgic, Yilmaz; Yildirim, Oguzhan; Cagin, Yasir F; Atayan, Yahya; Cengiz, Ayse N; Emul, Cihat; Esener, Zeynep; Erbay, Mehmet F; Tekedereli, Ibrahim.
Afiliación
  • Erdogan MA; Departments of Gastroenterology.
  • Seckin Y; Departments of Gastroenterology.
  • Harputluoglu MM; Departments of Gastroenterology.
  • Karincaoglu M; Departments of Gastroenterology.
  • Aladag M; Departments of Gastroenterology.
  • Caliskan AR; Departments of Gastroenterology.
  • Bilgic Y; Departments of Gastroenterology.
  • Yildirim O; Departments of Gastroenterology.
  • Cagin YF; Departments of Gastroenterology.
  • Atayan Y; Departments of Gastroenterology.
  • Cengiz AN; Internal Diseases.
  • Emul C; Internal Diseases.
  • Esener Z; Medical Biology and Genetics.
  • Erbay MF; Radiology, Faculty of Medicine, Inonu University, Malatya, Turkey.
  • Tekedereli I; Medical Biology and Genetics.
Clin Dysmorphol ; 28(1): 22-25, 2019 Jan.
Article en En | MEDLINE | ID: mdl-30407211
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Seudoobstrucción Intestinal / Encefalomiopatías Mitocondriales / Sitios de Empalme de ARN / Mutación Límite: Adult / Female / Humans / Male Idioma: En Revista: Clin Dysmorphol Asunto de la revista: TERATOLOGIA Año: 2019 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Seudoobstrucción Intestinal / Encefalomiopatías Mitocondriales / Sitios de Empalme de ARN / Mutación Límite: Adult / Female / Humans / Male Idioma: En Revista: Clin Dysmorphol Asunto de la revista: TERATOLOGIA Año: 2019 Tipo del documento: Article