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Genotype-phenotype dilemma in a case of sudden cardiac death with the E1053K mutation and a deletion in the SCN5A gene.
Jenewein, T; Beckmann, B M; Rose, S; Osterhues, H H; Schmidt, U; Wolpert, C; Miny, P; Marschall, C; Alders, M; Bezzina, C R; Wilde, A A M; Kääb, S; Kauferstein, S.
Afiliación
  • Jenewein T; Institute of Legal Medicine, University of Frankfurt, Frankfurt am Main, Germany.
  • Beckmann BM; University Hospital Munich, Department of Medicine I, Ludwig Maximilians University, Munich, Germany; German Cardiovascular Research Center (DZHK), Partner Site: Munich Heart Alliance, Munich, Germany.
  • Rose S; Institute of Legal Medicine, University of Frankfurt, Frankfurt am Main, Germany.
  • Osterhues HH; District Hospital Loerrach, Medical Clinic, Loerrach, Germany.
  • Schmidt U; Institute of Legal Medicine, University Hospital of Freiburg, Freiburg, Germany.
  • Wolpert C; Klinik für Innere Medizin, Cardiology Klinikum Ludwigsburg, Ludwigsburg, Germany.
  • Miny P; Medical Genetics, University Hospital Basel, Basel, Switzerland.
  • Marschall C; Center of Human Genetics and Laboratory Diagnostics, Martinsried, Germany.
  • Alders M; Department of Clinical Genetics, Amsterdam Medical Center, Amsterdam, The Netherlands.
  • Bezzina CR; Heart Centre, Department of Clinical and Experimental Cardiology, Amsterdam Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
  • Wilde AAM; Heart Centre, Department of Clinical and Experimental Cardiology, Amsterdam Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Princess Al-Jawhara Al-Brahim Centre of Excellence in Research of Hereditary Disorders, Jeddah, Kingdom of Saudi Arabia.
  • Kääb S; University Hospital Munich, Department of Medicine I, Ludwig Maximilians University, Munich, Germany; German Cardiovascular Research Center (DZHK), Partner Site: Munich Heart Alliance, Munich, Germany.
  • Kauferstein S; Institute of Legal Medicine, University of Frankfurt, Frankfurt am Main, Germany. Electronic address: kauferstein@em.uni-frankfurt.de.
Forensic Sci Int ; 275: 187-194, 2017 Jun.
Article en En | MEDLINE | ID: mdl-28391114
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Muerte Súbita Cardíaca / Eliminación de Gen / Canal de Sodio Activado por Voltaje NAV1.5 / Mutación Tipo de estudio: Prognostic_studies Idioma: En Revista: Forensic Sci Int Año: 2017 Tipo del documento: Article
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Muerte Súbita Cardíaca / Eliminación de Gen / Canal de Sodio Activado por Voltaje NAV1.5 / Mutación Tipo de estudio: Prognostic_studies Idioma: En Revista: Forensic Sci Int Año: 2017 Tipo del documento: Article