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Identification of a Novel GLA Gene Mutation, p.Ile239Met, in Fabry Disease With a Predominant Cardiac Phenotype.
Csányi, Beáta; Hategan, Lidia; Nagy, Viktória; Obál, Izabella; Varga, Edina T; Borbás, János; Tringer, Annamária; Eichler, Sabrina; Forster, Tamás; Rolfs, Arndt; Sepp, Róbert.
Afiliación
  • Csányi B; 2nd Department of Internal Medicine and Cardiology Centre, University of Szeged.
  • Hategan L; 2nd Department of Internal Medicine and Cardiology Centre, University of Szeged.
  • Nagy V; 2nd Department of Internal Medicine and Cardiology Centre, University of Szeged.
  • Obál I; Department of Neurology, University of Szeged.
  • Varga ET; Department of Neurology, University of Szeged.
  • Borbás J; 2nd Department of Internal Medicine and Cardiology Centre, University of Szeged.
  • Tringer A; 2nd Department of Internal Medicine and Cardiology Centre, University of Szeged.
  • Eichler S; Centogene AG.
  • Forster T; Centogene AG.
  • Rolfs A; Centogene AG.
  • Sepp R; Albrecht-Kossel-Institute for Neuroregeneration, University of Rostock.
Int Heart J ; 58(3): 454-458, 2017 May 31.
Article en En | MEDLINE | ID: mdl-28496025
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: ADN / Pruebas Genéticas / Enfermedad de Fabry / Hipertrofia Ventricular Izquierda / Alfa-Galactosidasa / Mutación Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies Límite: Adult / Female / Humans Idioma: En Revista: Int Heart J Asunto de la revista: CARDIOLOGIA Año: 2017 Tipo del documento: Article
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: ADN / Pruebas Genéticas / Enfermedad de Fabry / Hipertrofia Ventricular Izquierda / Alfa-Galactosidasa / Mutación Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies Límite: Adult / Female / Humans Idioma: En Revista: Int Heart J Asunto de la revista: CARDIOLOGIA Año: 2017 Tipo del documento: Article