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Identification of a novel non-coding mutation in C1qB in a Dutch child with C1q deficiency associated with recurrent infections.
van Schaarenburg, Rosanne A; Daha, Nina A; Schonkeren, Joris J M; Nivine Levarht, E W; van Gijlswijk-Janssen, Danielle J; Kurreeman, Fina A S; Roos, Anja; van Kooten, Cees; Koelman, Carin A; Ernst-Kruis, Margot R; Toes, Rene E M; Huizinga, Tom W J; Lankester, Arjan C; Trouw, Leendert A.
Afiliação
  • van Schaarenburg RA; Department of Rheumatology, Leiden University Medical Center, Leiden, The Netherlands.
  • Daha NA; Department of Rheumatology, Leiden University Medical Center, Leiden, The Netherlands.
  • Schonkeren JJ; Department of Rheumatology, Leiden University Medical Center, Leiden, The Netherlands.
  • Nivine Levarht EW; Department of Rheumatology, Leiden University Medical Center, Leiden, The Netherlands.
  • van Gijlswijk-Janssen DJ; Department of Nephrology, Leiden University Medical Center, Leiden, The Netherlands.
  • Kurreeman FA; Department of Rheumatology, Leiden University Medical Center, Leiden, The Netherlands.
  • Roos A; Department of Clinical Chemistry, Leiden University Medical Center, Leiden, The Netherlands; Department of Medical Microbiology and Immunology, St Antonius Hospital, Nieuwegein, The Netherlands.
  • van Kooten C; Department of Nephrology, Leiden University Medical Center, Leiden, The Netherlands.
  • Koelman CA; Meander Medical Center, Amersfoort, The Netherlands.
  • Ernst-Kruis MR; Meander Medical Center, Amersfoort, The Netherlands.
  • Toes RE; Department of Rheumatology, Leiden University Medical Center, Leiden, The Netherlands.
  • Huizinga TW; Department of Rheumatology, Leiden University Medical Center, Leiden, The Netherlands.
  • Lankester AC; Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands.
  • Trouw LA; Department of Rheumatology, Leiden University Medical Center, Leiden, The Netherlands. Electronic address: L.A.Trouw@lumc.nl.
Immunobiology ; 220(3): 422-7, 2015 Mar.
Article em En | MEDLINE | ID: mdl-25454803

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Complemento C1q / Sítios de Splice de RNA Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Humans / Male País/Região como assunto: Europa Idioma: En Revista: Immunobiology Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Holanda

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Complemento C1q / Sítios de Splice de RNA Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Humans / Male País/Região como assunto: Europa Idioma: En Revista: Immunobiology Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Holanda