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Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients.
Vindas-Smith, Rebeca; Fiore, Michele; Vásquez, Melissa; Cuenca, Patricia; Del Valle, Gerardo; Lagostena, Laura; Gaitán-Peñas, Héctor; Estevez, Raúl; Pusch, Michael; Morales, Fernando.
Affiliation
  • Vindas-Smith R; Instituto de Investigaciones en Salud (INISA), Universidad de Costa Rica, San José, Costa Rica.
  • Fiore M; Istituto di Biofisica, CNR, Via De Marini 6, Genova, Italy.
  • Vásquez M; Instituto de Investigaciones en Salud (INISA), Universidad de Costa Rica, San José, Costa Rica.
  • Cuenca P; Centro de Investigación en Neurociencias (CIN), Universidad de Costa Rica, San José, Costa Rica.
  • Del Valle G; Instituto de Investigaciones en Salud (INISA), Universidad de Costa Rica, San José, Costa Rica.
  • Lagostena L; Centro de Investigación en Neurociencias (CIN), Universidad de Costa Rica, San José, Costa Rica.
  • Gaitán-Peñas H; Escuela de Medicina, Universidad de Costa Rica, Curridabat, San José, Costa Rica.
  • Estevez R; Laboratorio de Neurofisiología (Neurolab), Curridabat, San José, Costa Rica.
  • Pusch M; Istituto di Biofisica, CNR, Via De Marini 6, Genova, Italy.
  • Morales F; Departament de Ciències Fisiològiques II, Unitat de Fisiologia, Universitat de Barcelona, Carrer Feixa Llarga s/n, L'Hospitalet de Llobregat, Barcelona, Spain.
Hum Mutat ; 37(1): 74-83, 2016 Jan.
Article in En | MEDLINE | ID: mdl-26510092
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Full text: 1 Database: MEDLINE Main subject: Chloride Channels / Genetic Association Studies / Mutation / Myotonia Type of study: Diagnostic_studies / Prognostic_studies Limits: Animals / Female / Humans / Male Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2016 Type: Article Affiliation country: Costa Rica
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Full text: 1 Database: MEDLINE Main subject: Chloride Channels / Genetic Association Studies / Mutation / Myotonia Type of study: Diagnostic_studies / Prognostic_studies Limits: Animals / Female / Humans / Male Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2016 Type: Article Affiliation country: Costa Rica