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Functional characterization of two novel non-synonymous alterations in CD46 and a Q950H change in factor H found in atypical hemolytic uremic syndrome patients.
Mohlin, Frida C; Nilsson, Sara C; Levart, Tanja Kersnik; Golubovic, Ema; Rusai, Krisztina; Müller-Sacherer, Thomas; Arbeiter, Klaus; Pállinger, Éva; Szarvas, Nóra; Csuka, Dorottya; Szilágyi, Ágnes; Villoutreix, Bruno O; Prohászka, Zoltán; Blom, Anna M.
Afiliação
  • Mohlin FC; Division of Medical protein chemistry, Department of Translational Medicine, Lund University, Malmö, Sweden.
  • Nilsson SC; Division of Medical protein chemistry, Department of Translational Medicine, Lund University, Malmö, Sweden.
  • Levart TK; Department of Pediatric Nephrology, University Medical Centre, Ljubljana, Slovenia.
  • Golubovic E; Clinic of Pediatrics, Clinical Center, Medical Faculty, University of Nis, Nis, Serbia.
  • Rusai K; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
  • Müller-Sacherer T; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
  • Arbeiter K; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
  • Pállinger É; Department of Genetics, Cell- and Immunobiology, Semmelweis University.
  • Szarvas N; 3(rd) Department of Internal Medicine, Research Laboratory and Füst György Complement Diagnostic Laboratory, Faculty of Medicine, Semmelweis University, Budapest, Hungary.
  • Csuka D; 3(rd) Department of Internal Medicine, Research Laboratory and Füst György Complement Diagnostic Laboratory, Faculty of Medicine, Semmelweis University, Budapest, Hungary.
  • Szilágyi Á; 3(rd) Department of Internal Medicine, Research Laboratory and Füst György Complement Diagnostic Laboratory, Faculty of Medicine, Semmelweis University, Budapest, Hungary.
  • Villoutreix BO; INSERM, U973, F-75205 Paris, France.
  • Prohászka Z; 3(rd) Department of Internal Medicine, Research Laboratory and Füst György Complement Diagnostic Laboratory, Faculty of Medicine, Semmelweis University, Budapest, Hungary.
  • Blom AM; Division of Medical protein chemistry, Department of Translational Medicine, Lund University, Malmö, Sweden. Electronic address: anna.blom@med.lu.se.
Mol Immunol ; 65(2): 367-76, 2015 Jun.
Article em En | MEDLINE | ID: mdl-25733390
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Regulação da Expressão Gênica / Fator H do Complemento / Mutação de Sentido Incorreto / Proteína Cofatora de Membrana / Síndrome Hemolítico-Urêmica Atípica Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Regulação da Expressão Gênica / Fator H do Complemento / Mutação de Sentido Incorreto / Proteína Cofatora de Membrana / Síndrome Hemolítico-Urêmica Atípica Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article