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Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.
Høyer, Helle; Braathen, Geir J; Busk, Øyvind L; Holla, Øystein L; Svendsen, Marit; Hilmarsen, Hilde T; Strand, Linda; Skjelbred, Camilla F; Russell, Michael B.
Afiliación
  • Høyer H; Section of Medical Genetics, Department of Laboratory Medicine, Telemark Hospital, 3710 Skien, Norway ; Head and Neck Research Group, Research Centre, Akershus University Hospital, Lørenskog, Norway ; Campus Akershus University Hospital, University of Oslo, Nordbyhagen, Norway.
  • Braathen GJ; Section of Medical Genetics, Department of Laboratory Medicine, Telemark Hospital, 3710 Skien, Norway ; Head and Neck Research Group, Research Centre, Akershus University Hospital, Lørenskog, Norway ; Campus Akershus University Hospital, University of Oslo, Nordbyhagen, Norway.
  • Busk ØL; Section of Medical Genetics, Department of Laboratory Medicine, Telemark Hospital, 3710 Skien, Norway.
  • Holla ØL; Section of Medical Genetics, Department of Laboratory Medicine, Telemark Hospital, 3710 Skien, Norway.
  • Svendsen M; Section of Medical Genetics, Department of Laboratory Medicine, Telemark Hospital, 3710 Skien, Norway.
  • Hilmarsen HT; Section of Medical Genetics, Department of Laboratory Medicine, Telemark Hospital, 3710 Skien, Norway.
  • Strand L; Section of Medical Genetics, Department of Laboratory Medicine, Telemark Hospital, 3710 Skien, Norway.
  • Skjelbred CF; Section of Medical Genetics, Department of Laboratory Medicine, Telemark Hospital, 3710 Skien, Norway.
  • Russell MB; Head and Neck Research Group, Research Centre, Akershus University Hospital, Lørenskog, Norway ; Campus Akershus University Hospital, University of Oslo, Nordbyhagen, Norway.
Biomed Res Int ; 2014: 210401, 2014.
Article en En | MEDLINE | ID: mdl-25025039
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth / Genética de Población Tipo de estudio: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Biomed Res Int Año: 2014 Tipo del documento: Article
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth / Genética de Población Tipo de estudio: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Biomed Res Int Año: 2014 Tipo del documento: Article