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Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions.
Tschernoster, Nikolai; Erger, Florian; Kohl, Stefan; Reusch, Björn; Wenzel, Andrea; Walsh, Stephen; Thiele, Holger; Becker, Christian; Franitza, Marek; Bartram, Malte P; Kömhoff, Martin; Schumacher, Lena; Kukat, Christian; Borodina, Tatiana; Quedenau, Claudia; Nürnberg, Peter; Rinschen, Markus M; Driller, Jan H; Pedersen, Bjørn P; Schlingmann, Karl P; Hüttel, Bruno; Bockenhauer, Detlef; Beck, Bodo; Altmüller, Janine.
Afiliação
  • Tschernoster N; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
  • Erger F; Institute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Kerpener Str. 34, 50931, Cologne, Germany.
  • Kohl S; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
  • Reusch B; Institute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Kerpener Str. 34, 50931, Cologne, Germany.
  • Wenzel A; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
  • Walsh S; Department of Pediatrics, Cologne Children's Hospital, Cologne, Germany.
  • Thiele H; Institute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Kerpener Str. 34, 50931, Cologne, Germany.
  • Becker C; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
  • Franitza M; Institute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Kerpener Str. 34, 50931, Cologne, Germany.
  • Bartram MP; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
  • Kömhoff M; Department of Renal Medicine, UCL, University College London, London, UK.
  • Schumacher L; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
  • Kukat C; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
  • Borodina T; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
  • Quedenau C; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
  • Nürnberg P; Department II of Internal Medicine, University of Cologne, Cologne, Germany.
  • Rinschen MM; Department of Pediatrics, University Marburg, Marburg, Germany.
  • Driller JH; FACS & Imaging Core Facility, Max Planck Institute for Biology of Ageing, Cologne, Germany.
  • Pedersen BP; FACS & Imaging Core Facility, Max Planck Institute for Biology of Ageing, Cologne, Germany.
  • Schlingmann KP; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Hannoversche Straße 28, 10115, Berlin, Germany.
  • Hüttel B; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Hannoversche Straße 28, 10115, Berlin, Germany.
  • Bockenhauer D; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
  • Beck B; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
  • Altmüller J; Department of Biomedicine, Aarhus University, Aarhus, Denmark.
Genome Med ; 15(1): 62, 2023 08 23.
Article em En | MEDLINE | ID: mdl-37612755
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Bartter Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Genome Med Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Bartter Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Genome Med Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Alemanha