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A novel pathogenic mutation on Interleukin-7 receptor leading to severe combined immunodeficiency identified with newborn screening and whole exome sequencing.
Liao, Cheng-Yu; Yu, Hui-Wen; Cheng, Chao-Neng; Chen, Jiann-Shiuh; Lin, Ching-Wei; Chen, Peng-Chieh; Shieh, Chi-Chang.
Afiliación
  • Liao CY; Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
  • Yu HW; Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
  • Cheng CN; Department of Pediatrics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
  • Chen JS; Department of Pediatrics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
  • Lin CW; Department of Pediatrics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
  • Chen PC; Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan. Electronic address: pengchic@mail.ncku.edu.tw.
  • Shieh CC; Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan; Department of Pediatrics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan. Electronic address: cshieh@mail.ncku.edu.tw.
J Microbiol Immunol Infect ; 53(1): 99-105, 2020 Feb.
Article en En | MEDLINE | ID: mdl-29551298
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Mutación del Sistema de Lectura / Inmunodeficiencia Combinada Grave / Subunidad alfa del Receptor de Interleucina-7 / Secuenciación del Exoma Tipo de estudio: Diagnostic_studies / Screening_studies Límite: Female / Humans / Newborn Idioma: En Revista: J Microbiol Immunol Infect Asunto de la revista: ALERGIA E IMUNOLOGIA / MICROBIOLOGIA Año: 2020 Tipo del documento: Article País de afiliación: Taiwán
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Mutación del Sistema de Lectura / Inmunodeficiencia Combinada Grave / Subunidad alfa del Receptor de Interleucina-7 / Secuenciación del Exoma Tipo de estudio: Diagnostic_studies / Screening_studies Límite: Female / Humans / Newborn Idioma: En Revista: J Microbiol Immunol Infect Asunto de la revista: ALERGIA E IMUNOLOGIA / MICROBIOLOGIA Año: 2020 Tipo del documento: Article País de afiliación: Taiwán