About: Clinical, genetic and biophysical characterization of three novel SCN5A mutations in patients with Brugada syndrome     Goto   Sponge   Distinct   Permalink

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  • Three new SCN5A mutations were detected in patients with Brugada syndrome, two of them frameshift mutations with complete loss of function and one missense mutation with decreased function and impaired inactivation gating.
  • Three new SCN5A mutations were detected in patients with Brugada syndrome, two of them frameshift mutations with complete loss of function and one missense mutation with decreased function and impaired inactivation gating. (en)
Title
  • Clinical, genetic and biophysical characterization of three novel SCN5A mutations in patients with Brugada syndrome
  • Clinical, genetic and biophysical characterization of three novel SCN5A mutations in patients with Brugada syndrome (en)
skos:prefLabel
  • Clinical, genetic and biophysical characterization of three novel SCN5A mutations in patients with Brugada syndrome
  • Clinical, genetic and biophysical characterization of three novel SCN5A mutations in patients with Brugada syndrome (en)
skos:notation
  • RIV/00216224:14110/06:00018554!RIV11-MSM-14110___
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • Z(MSM0021622402)
http://linked.open...vai/riv/dodaniDat
http://linked.open...aciTvurceVysledku
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  • 468884
http://linked.open...ai/riv/idVysledku
  • RIV/00216224:14110/06:00018554
http://linked.open...riv/jazykVysledku
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  • SCN5A; Brugada syndrome; electrophysiology; mutation (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...ontrolniKodProRIV
  • [7564535D84CF]
http://linked.open...in/vavai/riv/obor
http://linked.open...ichTvurcuVysledku
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http://linked.open...UplatneniVysledku
http://linked.open...iv/tvurceVysledku
  • Bébarová, Markéta
  • Arens, Yvonne
  • Geelen, Jan
  • Jongbloed, Roselie
  • Rodriguez, Luz-Maria
  • Timmermans, Carl
  • Volders, Paul
http://linked.open...n/vavai/riv/zamer
http://localhost/t...ganizacniJednotka
  • 14110
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