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Novel SCN5A p.W697X Nonsense Mutation Segregation in a Family with Brugada Syndrome.
Micaglio, Emanuele; Monasky, Michelle M; Resta, Nicoletta; Bagnulo, Rosanna; Ciconte, Giuseppe; Giannelli, Luigi; Locati, Emanuela T; Vicedomini, Gabriele; Borrelli, Valeria; Ghiroldi, Andrea; Anastasia, Luigi; Benedetti, Sara; Di Resta, Chiara; Ferrari, Maurizio; Pappone, Carlo.
Afiliação
  • Micaglio E; Arrhythmology Department, IRCCS Policlinico San Donato, San Donato Milanese, 20097 Milan, Italy.
  • Monasky MM; Arrhythmology Department, IRCCS Policlinico San Donato, San Donato Milanese, 20097 Milan, Italy. Michelle.monasky@grupposandonato.it.
  • Resta N; Medical Genetics Unit, Department of Biomedical Sciences and Human Oncology, "Aldo Moro" University of Bari, Policlinico Hospital, 70121 Bari, Italy. nicoletta.resta@uniba.it.
  • Bagnulo R; Medical Genetics Unit, Department of Biomedical Sciences and Human Oncology, "Aldo Moro" University of Bari, Policlinico Hospital, 70121 Bari, Italy. rosanna.bagnulo@uniba.it.
  • Ciconte G; Arrhythmology Department, IRCCS Policlinico San Donato, San Donato Milanese, 20097 Milan, Italy. g.ciconte@gmail.com.
  • Giannelli L; Arrhythmology Department, IRCCS Policlinico San Donato, San Donato Milanese, 20097 Milan, Italy. giannelli.luigi@gmail.com.
  • Locati ET; Arrhythmology Department, IRCCS Policlinico San Donato, San Donato Milanese, 20097 Milan, Italy. EmanuelaTeresina.Locati@grupposandonato.it.
  • Vicedomini G; Arrhythmology Department, IRCCS Policlinico San Donato, San Donato Milanese, 20097 Milan, Italy. Gabriele.Vicedomini@grupposandonato.it.
  • Borrelli V; Arrhythmology Department, IRCCS Policlinico San Donato, San Donato Milanese, 20097 Milan, Italy. valiborrelli91@gmail.com.
  • Ghiroldi A; Stem Cells for Tissue Engineering Laboratory, IRCCS Policlinico San Donato, San Donato Milanese, 20097 Milan, Italy. andrea.ghiroldi@gmail.com.
  • Anastasia L; Stem Cells for Tissue Engineering Laboratory, IRCCS Policlinico San Donato, San Donato Milanese, 20097 Milan, Italy. luigi.anastasia@unimi.it.
  • Benedetti S; Department of Biomedical Sciences for Health, University of Milan, 20122 Milan, Italy. luigi.anastasia@unimi.it.
  • Di Resta C; Laboratory of Clinical Molecular Biology and Cytogenetics, Division of Genetics and Cellular Biology, IRCCS San Raffaele Hospital, 20132 Milan, Italy. Benedetti.sara@hsr.it.
  • Ferrari M; Genomic Unit for the Diagnosis of Human Pathologies, Division of Genetics and Cellular Biology, IRCCS San Raffaele Hospital, 20132 Milan, Italy. diresta.chiara@hsr.it.
  • Pappone C; Vita-Salute San Raffaele University, 20132 Milan, Italy. diresta.chiara@hsr.it.
Int J Mol Sci ; 20(19)2019 10 04.
Article em En | MEDLINE | ID: mdl-31590245

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Códon sem Sentido / Síndrome de Brugada / Canal de Sódio Disparado por Voltagem NAV1.5 Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2019 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Códon sem Sentido / Síndrome de Brugada / Canal de Sódio Disparado por Voltagem NAV1.5 Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2019 Tipo de documento: Article