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A Novel Homozygous In-Frame Deletion in Complement Factor 3 Underlies Early-Onset Autosomal Recessive Atypical Hemolytic Uremic Syndrome - Case Report.
Pollack, Shirley; Eisenstein, Israel; Mory, Adi; Paperna, Tamar; Ofir, Ayala; Baris-Feldman, Hagit; Weiss, Karin; Veszeli, Nóra; Csuka, Dorottya; Shemer, Revital; Glaser, Fabian; Prohászka, Zoltán; Magen, Daniella.
Afiliación
  • Pollack S; Pediatric Nephrology Institute, Ruth Children's Hospital, Haifa, Israel.
  • Eisenstein I; Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel.
  • Mory A; Pediatric Nephrology Institute, Ruth Children's Hospital, Haifa, Israel.
  • Paperna T; Genetic Institute, Haifa, Israel.
  • Ofir A; Genetic Institute, Haifa, Israel.
  • Baris-Feldman H; Genetic Institute, Haifa, Israel.
  • Weiss K; Genetic Institute, Haifa, Israel.
  • Veszeli N; Genetic Institute, Haifa, Israel.
  • Csuka D; Research Laboratory, Department of Internal Medicine and Haematology, and MTA-SE Research Group of Immunology and Hematology, Hungarian Academy of Sciences and Semmelweis University, Budapest, Hungary.
  • Shemer R; Research Laboratory, Department of Internal Medicine and Haematology, and MTA-SE Research Group of Immunology and Hematology, Hungarian Academy of Sciences and Semmelweis University, Budapest, Hungary.
  • Glaser F; Laboratory of Molecular Medicine, Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel.
  • Prohászka Z; Bioinformatics Knowledge Unit, The Lorry I. Lokey Interdisciplinary Center for Life Sciences and Engineering, Technion-Israel Institute of Technology, Haifa, Israel.
  • Magen D; Research Laboratory, Department of Internal Medicine and Haematology, and MTA-SE Research Group of Immunology and Hematology, Hungarian Academy of Sciences and Semmelweis University, Budapest, Hungary.
Front Immunol ; 12: 608604, 2021.
Article en En | MEDLINE | ID: mdl-34248927

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Complemento C3 / Secuencia de Bases / Eliminación de Secuencia / Síndrome Hemolítico Urémico Atípico Tipo de estudio: Etiology_studies Límite: Child, preschool / Humans / Male Idioma: En Revista: Front Immunol Año: 2021 Tipo del documento: Article País de afiliación: Israel

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Complemento C3 / Secuencia de Bases / Eliminación de Secuencia / Síndrome Hemolítico Urémico Atípico Tipo de estudio: Etiology_studies Límite: Child, preschool / Humans / Male Idioma: En Revista: Front Immunol Año: 2021 Tipo del documento: Article País de afiliación: Israel