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Gain-of-function mutation in complement C2 protein identified in a patient with aHUS.
Urban, Aleksandra; Volokhina, Elena; Felberg, Anna; Stasilojc, Grzegorz; Blom, Anna M; Jongerius, Ilse; van den Heuvel, Lambertus; Thiel, Marcel; Oldziej, Stanislaw; Arjona, Emilia; de Córdoba, Santiago Rodriguez; Okrój, Marcin.
Afiliação
  • Urban A; Intercollegiate Faculty of Biotechnology, University of Gdansk and Medical University of Gdansk, Gdansk, Poland.
  • Volokhina E; Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Amalia Children's Hospital, Department of Pediatric Nephrology, Department of Laboratory Medicine, Nijmegen, The Netherlands.
  • Felberg A; Intercollegiate Faculty of Biotechnology, University of Gdansk and Medical University of Gdansk, Gdansk, Poland.
  • Stasilojc G; Intercollegiate Faculty of Biotechnology, University of Gdansk and Medical University of Gdansk, Gdansk, Poland.
  • Blom AM; Department of Translational Medicine, Lund University, Malmö, Sweden.
  • Jongerius I; Sanquin Research, the Department of Immunopathology, Amsterdam and Landsteiner Laboratory, Amsterdam University Medical Center, University of Amsterdam, The Netherlands; Emma Children's Hospital, Department of Pediatric Immunology, Rheumatology and Infectious Diseases, Amsterdam University Medical C
  • van den Heuvel L; Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Amalia Children's Hospital, Department of Pediatric Nephrology, Department of Laboratory Medicine, Nijmegen, The Netherlands; Department of Pediatric Nephrology and Department of Growth and Regeneration, University Hos
  • Thiel M; Intercollegiate Faculty of Biotechnology, University of Gdansk and Medical University of Gdansk, Gdansk, Poland.
  • Oldziej S; Intercollegiate Faculty of Biotechnology, University of Gdansk and Medical University of Gdansk, Gdansk, Poland.
  • Arjona E; Centro de Investigaciones Biológicas and Centro de Investigación Biomédica en Enfermedades Raras, Madrid, Spain.
  • de Córdoba SR; Centro de Investigaciones Biológicas and Centro de Investigación Biomédica en Enfermedades Raras, Madrid, Spain.
  • Okrój M; Intercollegiate Faculty of Biotechnology, University of Gdansk and Medical University of Gdansk, Gdansk, Poland. Electronic address: marcin.okroj@gumed.edu.pl.
J Allergy Clin Immunol ; 146(4): 916-919.e11, 2020 10.
Article em En | MEDLINE | ID: mdl-32113979
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Complemento C2 / Predisposição Genética para Doença / Estudos de Associação Genética / Síndrome Hemolítico-Urêmica Atípica / Mutação com Ganho de Função Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Complemento C2 / Predisposição Genética para Doença / Estudos de Associação Genética / Síndrome Hemolítico-Urêmica Atípica / Mutação com Ganho de Função Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article