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Menkes disease diagnosed by a novel ATP7A frameshift mutation in a patient with infantile spasms-a case report.
Li, Jinrong; Hu, Ruolan; Wang, Jialing; Yu, Ruixin; Xiong, Fei; Jiang, Mingyan.
Afiliación
  • Li J; Department of Pediatrics, West China Second University Hospital of Sichuan University.
  • Hu R; Ministry of Education Key Laboratory of Birth Defects and Related Diseases of Women and Children, Sichuan University, Chengdu, China.
  • Wang J; Department of Pediatrics, West China Second University Hospital of Sichuan University.
  • Yu R; Ministry of Education Key Laboratory of Birth Defects and Related Diseases of Women and Children, Sichuan University, Chengdu, China.
  • Xiong F; Department of Pediatrics, West China Second University Hospital of Sichuan University.
  • Jiang M; Ministry of Education Key Laboratory of Birth Defects and Related Diseases of Women and Children, Sichuan University, Chengdu, China.
Transl Pediatr ; 10(7): 1965-1971, 2021 Jul.
Article en En | MEDLINE | ID: mdl-34430447
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Transl Pediatr Año: 2021 Tipo del documento: Article Pais de publicación: China
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Transl Pediatr Año: 2021 Tipo del documento: Article Pais de publicación: China