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Unraveling Structural Rearrangements of the CFH Gene Cluster in Atypical Hemolytic Uremic Syndrome Patients Using Molecular Combing and Long-Fragment Targeted Sequencing.
Tschernoster, Nikolai; Erger, Florian; Walsh, Patrick R; McNicholas, Bairbre; Fistrek, Margareta; Habbig, Sandra; Schumacher, Anna-Lena; Folz-Donahue, Kat; Kukat, Christian; Toliat, Mohammad R; Becker, Christian; Thiele, Holger; Kavanagh, David; Nürnberg, Peter; Beck, Bodo B; Altmüller, Janine.
Afiliación
  • Tschernoster N; Cologne Center for Genomics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; Institute of Human Genetics, University of C
  • Erger F; Center for Molecular Medicine Cologne, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; Institute of Human Genetics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
  • Walsh PR; National Renal Complement Therapeutics Centre, Royal Victoria Infirmary and Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom.
  • McNicholas B; School of Medicine, National University of Ireland Galway, Galway, Ireland.
  • Fistrek M; Division of Nephrology, Arterial Hypertension Dialysis and Transplantation, Department of Internal Medicine, University Hospital Center Zagreb, School of Medicine, University of Zagreb, Zagreb, Croatia.
  • Habbig S; Department of Pediatrics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Pediatrics, Cologne, Germany.
  • Schumacher AL; FACS & Imaging Core Facility, Max Planck Institute for Biology of Ageing, Cologne, Germany.
  • Folz-Donahue K; FACS & Imaging Core Facility, Max Planck Institute for Biology of Ageing, Cologne, Germany.
  • Kukat C; FACS & Imaging Core Facility, Max Planck Institute for Biology of Ageing, Cologne, Germany.
  • Toliat MR; Cologne Center for Genomics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
  • Becker C; Cologne Center for Genomics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
  • Thiele H; Cologne Center for Genomics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
  • Kavanagh D; National Renal Complement Therapeutics Centre, Royal Victoria Infirmary and Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom.
  • Nürnberg P; Cologne Center for Genomics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
  • Beck BB; Center for Molecular Medicine Cologne, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; Institute of Human Genetics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
  • Altmüller J; Cologne Center for Genomics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; Berlin Institute of Health at Charité-Univer
J Mol Diagn ; 24(6): 619-631, 2022 06.
Article en En | MEDLINE | ID: mdl-35398599

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Familia de Multigenes / Factor H de Complemento / Síndrome Hemolítico Urémico Atípico Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: J Mol Diagn Asunto de la revista: BIOLOGIA MOLECULAR Año: 2022 Tipo del documento: Article

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Familia de Multigenes / Factor H de Complemento / Síndrome Hemolítico Urémico Atípico Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: J Mol Diagn Asunto de la revista: BIOLOGIA MOLECULAR Año: 2022 Tipo del documento: Article