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Eleven percent intact PGM3 in a severely immunodeficient patient with a novel splice-site mutation, a case report.
Lundin, Karin E; Wang, Qing; Hamasy, Abdulrahman; Marits, Per; Uzunel, Mehmet; Wirta, Valtteri; Wikström, Ann-Charlotte; Fasth, Anders; Ekwall, Olov; Smith, C I Edvard.
Afiliación
  • Lundin KE; Clinical Research Center, Novum, Department of Laboratory Medicine, Karolinska Institutet, SE-141 86, Stockholm, Sweden. karin.lundin@ki.se.
  • Wang Q; Clinical Research Center, Novum, Department of Laboratory Medicine, Karolinska Institutet, SE-141 86, Stockholm, Sweden.
  • Hamasy A; Clinical Research Center, Novum, Department of Laboratory Medicine, Karolinska Institutet, SE-141 86, Stockholm, Sweden.
  • Marits P; Present address: Department of Clinical Analysis, College of Pharmacy, Hawler Medical University, Erbil, Kurdistan Region, Iraq.
  • Uzunel M; Department of Clinical Immunology, Karolinska University Hospital, Huddinge, SE-14186, Stockholm, Sweden.
  • Wirta V; Department of Clinical Immunology, Karolinska University Hospital, Huddinge, SE-14186, Stockholm, Sweden.
  • Wikström AC; Science for Life Laboratory, Department of Microbiology, Tumor and Cell Biology, Karolinska Institutet, SE-171 65, Stockholm, Sweden.
  • Fasth A; Science for Life Laboratory, School of Biotechnology, KTH Royal Institute of Technology, SE-171 65, Stockholm, Sweden.
  • Ekwall O; Department of Clinical Immunology, Karolinska University Hospital, Huddinge, SE-14186, Stockholm, Sweden.
  • Smith CIE; Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy at University of Gothenburg, SE-416 85, Gothenburg, Sweden.
BMC Pediatr ; 18(1): 285, 2018 08 29.
Article en En | MEDLINE | ID: mdl-30157810
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fosfoglucomutasa / Sitios de Empalme de ARN / Síndromes de Inmunodeficiencia / Mutación Tipo de estudio: Prognostic_studies Límite: Child, preschool / Female / Humans Idioma: En Revista: BMC Pediatr Asunto de la revista: PEDIATRIA Año: 2018 Tipo del documento: Article País de afiliación: Suecia Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fosfoglucomutasa / Sitios de Empalme de ARN / Síndromes de Inmunodeficiencia / Mutación Tipo de estudio: Prognostic_studies Límite: Child, preschool / Female / Humans Idioma: En Revista: BMC Pediatr Asunto de la revista: PEDIATRIA Año: 2018 Tipo del documento: Article País de afiliación: Suecia Pais de publicación: Reino Unido