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CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel.
Skálová, Daniela; Zídková, Jana; Vohánka, Stanislav; Mazanec, Radim; Musová, Zuzana; Vondrácek, Petr; Mrázová, Lenka; Kraus, Josef; Réblová, Kamila; Fajkusová, Lenka.
Affiliation
  • Skálová D; Centre of Molecular Biology and Gene Therapy, University Hospital, Brno, Brno, Czech Republic ; Central European Institute of Technology, Masaryk University, Brno, Czech Republic.
  • Zídková J; Centre of Molecular Biology and Gene Therapy, University Hospital, Brno, Brno, Czech Republic ; Central European Institute of Technology, Masaryk University, Brno, Czech Republic.
  • Vohánka S; Department of Neurology, University Hospital Brno, Brno, Czech Republic.
  • Mazanec R; Department of Neurology, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
  • Musová Z; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
  • Vondrácek P; Department of Child Neurology, University Hospital Brno, Brno, Czech Republic.
  • Mrázová L; Department of Child Neurology, University Hospital Brno, Brno, Czech Republic.
  • Kraus J; Department of Child Neurology, Second School of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
  • Réblová K; Central European Institute of Technology, Masaryk University, Brno, Czech Republic.
  • Fajkusová L; Centre of Molecular Biology and Gene Therapy, University Hospital, Brno, Brno, Czech Republic ; Central European Institute of Technology, Masaryk University, Brno, Czech Republic.
PLoS One ; 8(12): e82549, 2013.
Article in En | MEDLINE | ID: mdl-24349310
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chloride Channels / Muscle, Skeletal / Mutation / Myotonia Congenita Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Adult / Female / Humans / Male Country/Region as subject: Europa Language: En Journal: PLoS One Journal subject: CIENCIA / MEDICINA Year: 2013 Type: Article Affiliation country: Czech Republic
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chloride Channels / Muscle, Skeletal / Mutation / Myotonia Congenita Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Adult / Female / Humans / Male Country/Region as subject: Europa Language: En Journal: PLoS One Journal subject: CIENCIA / MEDICINA Year: 2013 Type: Article Affiliation country: Czech Republic