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Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion.
Felhi, Rahma; Sfaihi, Lamia; Charif, Majida; Desquiret-Dumas, Valerie; Bris, Céline; Goudenège, David; Ammar-Keskes, Leila; Hachicha, Mongia; Bonneau, Dominique; Procaccio, Vincent; Reynier, Pascal; Amati-Bonneau, Patrizia; Lenaers, Guy; Fakhfakh, Faiza.
Afiliação
  • Felhi R; Molecular and Functional Genetics Laboratory, Faculty of Science of Sfax, University of Sfax, Tunisia. Electronic address: Rahma.90felhi@gmail.com.
  • Sfaihi L; Department of Pediatry, University Hospital Hedi Chaker, Sfax, Tunisia.
  • Charif M; MitoLab Team, Institut MitoVasc, UMR CNRS 6015, INSERM U1083, Angers University, Angers, France.
  • Desquiret-Dumas V; MitoLab Team, Institut MitoVasc, UMR CNRS 6015, INSERM U1083, Angers University, Angers, France; Department of Biochemistry and Genetics, University Hospital Angers, Angers, France.
  • Bris C; MitoLab Team, Institut MitoVasc, UMR CNRS 6015, INSERM U1083, Angers University, Angers, France; Department of Biochemistry and Genetics, University Hospital Angers, Angers, France.
  • Goudenège D; MitoLab Team, Institut MitoVasc, UMR CNRS 6015, INSERM U1083, Angers University, Angers, France; Department of Biochemistry and Genetics, University Hospital Angers, Angers, France.
  • Ammar-Keskes L; Human Molecular Genetics Laboratory, Faculty of Medecine of Sfax, University of Sfax, Tunisia.
  • Hachicha M; Department of Pediatry, University Hospital Hedi Chaker, Sfax, Tunisia.
  • Bonneau D; MitoLab Team, Institut MitoVasc, UMR CNRS 6015, INSERM U1083, Angers University, Angers, France; Department of Biochemistry and Genetics, University Hospital Angers, Angers, France.
  • Procaccio V; MitoLab Team, Institut MitoVasc, UMR CNRS 6015, INSERM U1083, Angers University, Angers, France; Department of Biochemistry and Genetics, University Hospital Angers, Angers, France.
  • Reynier P; MitoLab Team, Institut MitoVasc, UMR CNRS 6015, INSERM U1083, Angers University, Angers, France; Department of Biochemistry and Genetics, University Hospital Angers, Angers, France.
  • Amati-Bonneau P; MitoLab Team, Institut MitoVasc, UMR CNRS 6015, INSERM U1083, Angers University, Angers, France; Department of Biochemistry and Genetics, University Hospital Angers, Angers, France.
  • Lenaers G; MitoLab Team, Institut MitoVasc, UMR CNRS 6015, INSERM U1083, Angers University, Angers, France.
  • Fakhfakh F; Molecular and Functional Genetics Laboratory, Faculty of Science of Sfax, University of Sfax, Tunisia. Electronic address: Faiza.fakhfakh02@gmail.com.
Clin Chim Acta ; 488: 104-110, 2019 Jan.
Article em En | MEDLINE | ID: mdl-30395865
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Pseudo-Obstrução Intestinal / DNA Mitocondrial / Atrofia Óptica / Encefalomiopatias Mitocondriais / DNA Polimerase gama Tipo de estudo: Risk_factors_studies Limite: Adolescent / Child / Humans / Male Idioma: En Revista: Clin Chim Acta Ano de publicação: 2019 Tipo de documento: Article País de publicação: Holanda
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Pseudo-Obstrução Intestinal / DNA Mitocondrial / Atrofia Óptica / Encefalomiopatias Mitocondriais / DNA Polimerase gama Tipo de estudo: Risk_factors_studies Limite: Adolescent / Child / Humans / Male Idioma: En Revista: Clin Chim Acta Ano de publicação: 2019 Tipo de documento: Article País de publicação: Holanda