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In vitro and ex vivo rescue of a nonsense mutation responsible for severe coagulation factor V deficiency.
Todaro, Alice M; Radu, Claudia M; Ciccone, Maria; Toffanin, Serena; Serino, M Luisa; Campello, Elena; Bulato, Cristiana; Lunghi, Barbara; Gemmati, Donato; Cuneo, Antonio; Hackeng, Tilman M; Simioni, Paolo; Bernardi, Francesco; Castoldi, Elisabetta.
Affiliation
  • Todaro AM; Department of Biochemistry, Cardiovascular Research Institute Maastricht, Maastricht University, Maastricht, The Netherlands.
  • Radu CM; Department of Medicine, Thrombotic and Haemorrhagic Diseases Unit, Padua University Medical School, Padua, Italy.
  • Ciccone M; Department of Medical Sciences, Section of Haematology, Sant'Anna Hospital, Ferrara University, Ferrara, Italy.
  • Toffanin S; Department of Medicine, Thrombotic and Haemorrhagic Diseases Unit, Padua University Medical School, Padua, Italy.
  • Serino ML; Department of Medical Sciences, Section of Haematology, Sant'Anna Hospital, Ferrara University, Ferrara, Italy.
  • Campello E; Department of Medicine, Thrombotic and Haemorrhagic Diseases Unit, Padua University Medical School, Padua, Italy.
  • Bulato C; Department of Medicine, Thrombotic and Haemorrhagic Diseases Unit, Padua University Medical School, Padua, Italy.
  • Lunghi B; Department of Life Sciences and Biotechnology, Section of Biochemistry and Molecular Biology, Ferrara University, Ferrara, Italy.
  • Gemmati D; Department of Translational Medicine, Haemostasis & Thrombosis Centre, Ferrara University, Ferrara, Italy.
  • Cuneo A; Department of Medical Sciences, Section of Haematology, Sant'Anna Hospital, Ferrara University, Ferrara, Italy.
  • Hackeng TM; Department of Biochemistry, Cardiovascular Research Institute Maastricht, Maastricht University, Maastricht, The Netherlands.
  • Simioni P; Department of Medicine, Thrombotic and Haemorrhagic Diseases Unit, Padua University Medical School, Padua, Italy.
  • Bernardi F; Department of Life Sciences and Biotechnology, Section of Biochemistry and Molecular Biology, Ferrara University, Ferrara, Italy.
  • Castoldi E; Department of Biochemistry, Cardiovascular Research Institute Maastricht, Maastricht University, Maastricht, The Netherlands. Electronic address: e.castoldi@maastrichtuniversity.nl.
J Thromb Haemost ; 22(2): 410-422, 2024 Feb.
Article in En | MEDLINE | ID: mdl-37866515

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Codon, Nonsense / Factor V Deficiency Limits: Humans Language: En Journal: J Thromb Haemost Journal subject: HEMATOLOGIA Year: 2024 Document type: Article Affiliation country: Países Bajos Country of publication: Reino Unido

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Codon, Nonsense / Factor V Deficiency Limits: Humans Language: En Journal: J Thromb Haemost Journal subject: HEMATOLOGIA Year: 2024 Document type: Article Affiliation country: Países Bajos Country of publication: Reino Unido