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A Novel Nonsense Pathogenic TTN Variant Identified in a Patient with Severe Dilated Cardiomyopathy.
Micolonghi, Caterina; Fabiani, Marco; Pagannone, Erika; Savio, Camilla; Ricci, Marta; Caroselli, Silvia; Gambioli, Vittoria; Musumeci, Beatrice; Germani, Aldo; Tini, Giacomo; Autore, Camillo; Pizzuti, Antonio; Visco, Vincenzo; Rubattu, Speranza; Petrucci, Simona; Piane, Maria.
Afiliación
  • Micolonghi C; Department of Experimental Medicine, Faculty of Medicine and Dentistry, Sapienza University of Rome, 00161 Rome, Italy.
  • Fabiani M; Department of Experimental Medicine, Faculty of Medicine and Dentistry, Sapienza University of Rome, 00161 Rome, Italy.
  • Pagannone E; Human Genetics, ALTAMEDICA, 00198 Rome, Italy.
  • Savio C; Department of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy.
  • Ricci M; S. Andrea University Hospital, 00189 Rome, Italy.
  • Caroselli S; Department of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy.
  • Gambioli V; Department of Experimental Medicine, Faculty of Medicine and Dentistry, Sapienza University of Rome, 00161 Rome, Italy.
  • Musumeci B; Reproductive Genetics, Juno Genetics, 00188 Rome, Italy.
  • Germani A; Department of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy.
  • Tini G; Department of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy.
  • Autore C; Department of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy.
  • Pizzuti A; Department of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy.
  • Visco V; San Raffaele Cassino, 03043 Frosinone, Italy.
  • Rubattu S; Department of Experimental Medicine, Faculty of Medicine and Dentistry, Sapienza University of Rome, 00161 Rome, Italy.
  • Petrucci S; Medical Genetics Unit, IRCCS Mendel Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
  • Piane M; Department of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy.
Curr Issues Mol Biol ; 45(3): 2422-2430, 2023 Mar 15.
Article en En | MEDLINE | ID: mdl-36975527

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Prognostic_studies / Risk_factors_studies Idioma: En Revista: Curr Issues Mol Biol Asunto de la revista: BIOLOGIA MOLECULAR Año: 2023 Tipo del documento: Article País de afiliación: Italia

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Prognostic_studies / Risk_factors_studies Idioma: En Revista: Curr Issues Mol Biol Asunto de la revista: BIOLOGIA MOLECULAR Año: 2023 Tipo del documento: Article País de afiliación: Italia