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Characterization of the mechanism by which a nonsense variant in RYR2 leads to disordered calcium handling.
Hopton, Claire; Tijsen, Anke J; Maizels, Leonid; Arbel, Gil; Gepstein, Amira; Bates, Nicola; Brown, Benjamin; Huber, Irit; Kimber, Susan J; Newman, William G; Venetucci, Luigi; Gepstein, Lior.
Affiliation
  • Hopton C; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
  • Tijsen AJ; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.
  • Maizels L; Division of Cardiovascular Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
  • Arbel G; The Rappaport Faculty of Medicine and Research Institute, Technion-Institute of Technology, Haifa, Israel.
  • Gepstein A; Amsterdam UMC, Department of Experimental Cardiology, Amsterdam Cardiovascular Sciences, University of Amsterdam, Amsterdam, The Netherlands.
  • Bates N; The Rappaport Faculty of Medicine and Research Institute, Technion-Institute of Technology, Haifa, Israel.
  • Brown B; Division of Cardiology, Sheba Medical Center Hospital, Tel Hashomer, Israel.
  • Huber I; The Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Kimber SJ; The Talpiot Sheba Medical Leadership Program, Israel.
  • Newman WG; The Rappaport Faculty of Medicine and Research Institute, Technion-Institute of Technology, Haifa, Israel.
  • Venetucci L; The Rappaport Faculty of Medicine and Research Institute, Technion-Institute of Technology, Haifa, Israel.
  • Gepstein L; Division of Cell Matrix Biology and Regenerative Medicine, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
Physiol Rep ; 10(8): e15265, 2022 04.
Article de En | MEDLINE | ID: mdl-35439358
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Canal de libération du calcium du récepteur à la ryanodine / Cellules souches pluripotentes induites Limites: Humans Langue: En Journal: Physiol Rep Année: 2022 Type de document: Article Pays d'affiliation: Royaume-Uni
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Canal de libération du calcium du récepteur à la ryanodine / Cellules souches pluripotentes induites Limites: Humans Langue: En Journal: Physiol Rep Année: 2022 Type de document: Article Pays d'affiliation: Royaume-Uni