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Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene.
Bianciardi, Laura; Imperatore, Valentina; Fernandez-Vizarra, Erika; Lopomo, Angela; Falabella, Micol; Furini, Simone; Galluzzi, Paolo; Grosso, Salvatore; Zeviani, Massimo; Renieri, Alessandra; Mari, Francesca; Frullanti, Elisa.
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  • Bianciardi L; Medical Genetics, University of Siena, Siena, Italy.
  • Imperatore V; Medical Genetics, University of Siena, Siena, Italy.
  • Fernandez-Vizarra E; Mitochondrial Biology Unit, Medical Research Council Cambridge, Cambridge, UK.
  • Lopomo A; Department of Translational Research and New Technologies in Medicine and Surgery, University of Pisa, Pisa, Italy.
  • Falabella M; Mitochondrial Biology Unit, Medical Research Council Cambridge, Cambridge, UK; Department of Biochemical Sciences, Sapienza University, Rome, Italy.
  • Furini S; Department of Medical Biotechnologies, University of Siena, Siena, Italy.
  • Galluzzi P; Unit of Diagnostic and Therapeutic Neuroradiology, Department of Neurosciences, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
  • Grosso S; Clinica Pediatrica, University of Siena, Siena, Italy.
  • Zeviani M; Mitochondrial Biology Unit, Medical Research Council Cambridge, Cambridge, UK.
  • Renieri A; Medical Genetics, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy. Electronic address: alessandra.renieri@unisi.it.
  • Mari F; Medical Genetics, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy. Electronic address: francesca.mari@unisi.it.
  • Frullanti E; Medical Genetics, University of Siena, Siena, Italy.
Mol Genet Metab ; 119(3): 214-222, 2016 11.
Article en En | MEDLINE | ID: mdl-27623250
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Trastornos del Habla / Enfermedad de Leigh / Proteínas Mitocondriales / Exoma Tipo de estudio: Prognostic_studies Límite: Child, preschool / Humans / Male Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2016 Tipo del documento: Article País de afiliación: Italia
Texto completo
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XML
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Trastornos del Habla / Enfermedad de Leigh / Proteínas Mitocondriales / Exoma Tipo de estudio: Prognostic_studies Límite: Child, preschool / Humans / Male Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2016 Tipo del documento: Article País de afiliación: Italia