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The importance of functional validation after next-generation sequencing: evaluation of a novel CARD11 variant.
Lu, Henry Y; Sharma, Mehul; Biggs, Catherine M; Huang, Yu-Hsuan; Shopsowitz, Kevin E; Frosk, Patrick; Priatel, John J; Rubin, Tamar S; Turvey, Stuart E.
Afiliación
  • Lu HY; Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, BC, Canada.
  • Sharma M; Department of Experimental Medicine, University of British Columbia, Vancouver, BC, Canada.
  • Biggs CM; Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, BC, Canada.
  • Huang YH; Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, BC, Canada.
  • Shopsowitz KE; Department of Experimental Medicine, University of British Columbia, Vancouver, BC, Canada.
  • Frosk P; Department of Pathology and Laboratory Medicine, British Columbia Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada.
  • Priatel JJ; Department of Medical Genetics, British Columbia Children's Hospital, University of British Columbia, Vancouver, BC, Canada.
  • Rubin TS; Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB, Canada.
  • Turvey SE; Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, MB, Canada.
Pediatr Allergy Immunol ; 29(6): 663-668, 2018 09.
Article en En | MEDLINE | ID: mdl-29808493
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Inmunodeficiencia Combinada Grave / Proteínas Adaptadoras de Señalización CARD / Secuenciación de Nucleótidos de Alto Rendimiento / Guanilato Ciclasa Tipo de estudio: Diagnostic_studies Límite: Child / Humans / Male Idioma: En Revista: Pediatr Allergy Immunol Asunto de la revista: ALERGIA E IMUNOLOGIA / PEDIATRIA Año: 2018 Tipo del documento: Article País de afiliación: Canadá
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Inmunodeficiencia Combinada Grave / Proteínas Adaptadoras de Señalización CARD / Secuenciación de Nucleótidos de Alto Rendimiento / Guanilato Ciclasa Tipo de estudio: Diagnostic_studies Límite: Child / Humans / Male Idioma: En Revista: Pediatr Allergy Immunol Asunto de la revista: ALERGIA E IMUNOLOGIA / PEDIATRIA Año: 2018 Tipo del documento: Article País de afiliación: Canadá