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Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases.
Felhi, Rahma; Charif, Majida; Sfaihi, Lamia; Mkaouar-Rebai, Emna; Desquiret-Dumas, Valerie; Kallel, Rim; Bris, Céline; Goudenège, David; Guichet, Agnès; Bonneau, Dominique; Procaccio, Vincent; Reynier, Pascal; Amati-Bonneau, Patrizia; Hachicha, Mongia; Fakhfakh, Faiza; Lenaers, Guy.
Afiliação
  • Felhi R; Molecular and Functional Genetics Laboratory, Faculty of Science of Sfax, University of Sfax, Route Soukra, Km 3, Sfax, Tunisia. Rahma.90felhi@gmail.com.
  • Charif M; MitoLab Team, Institut MitoVasc, UMR CNRS6015, INSERM U1083, Angers University, Angers, France.
  • Sfaihi L; Genetics and Immuno-Cell Therapy Team, Mohammed First University, Oujda, Morocco.
  • Mkaouar-Rebai E; Departments of Pediatry, University Hospital Hedi Chaker, Sfax, Tunisia.
  • Desquiret-Dumas V; Molecular and Functional Genetics Laboratory, Faculty of Science of Sfax, University of Sfax, Route Soukra, Km 3, Sfax, Tunisia.
  • Kallel R; MitoLab Team, Institut MitoVasc, UMR CNRS6015, INSERM U1083, Angers University, Angers, France.
  • Bris C; Departments of Biochemistry and Genetics, University Hospital Angers, Angers, France.
  • Goudenège D; Departments of Pathology, University Hospital Habib Bourguiba, Sfax, Tunisia.
  • Guichet A; MitoLab Team, Institut MitoVasc, UMR CNRS6015, INSERM U1083, Angers University, Angers, France.
  • Bonneau D; Departments of Biochemistry and Genetics, University Hospital Angers, Angers, France.
  • Procaccio V; MitoLab Team, Institut MitoVasc, UMR CNRS6015, INSERM U1083, Angers University, Angers, France.
  • Reynier P; Departments of Biochemistry and Genetics, University Hospital Angers, Angers, France.
  • Amati-Bonneau P; MitoLab Team, Institut MitoVasc, UMR CNRS6015, INSERM U1083, Angers University, Angers, France.
  • Hachicha M; Departments of Biochemistry and Genetics, University Hospital Angers, Angers, France.
  • Fakhfakh F; MitoLab Team, Institut MitoVasc, UMR CNRS6015, INSERM U1083, Angers University, Angers, France.
  • Lenaers G; Departments of Biochemistry and Genetics, University Hospital Angers, Angers, France.
Mol Biol Rep ; 47(5): 3779-3787, 2020 May.
Article em En | MEDLINE | ID: mdl-32319008
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Mitocondriais / Proteínas Mitocondriais / Alanina-tRNA Ligase Tipo de estudo: Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Mitocondriais / Proteínas Mitocondriais / Alanina-tRNA Ligase Tipo de estudo: Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article