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Functional defect of three novel SCN5A mutations in patients with Brugada syndrome

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F06%3A00018552" target="_blank" >RIV/00216224:14110/06:00018552 - isvavai.cz</a>

  • Result on the web

  • DOI - Digital Object Identifier

Alternative languages

  • Result language

    angličtina

  • Original language name

    Functional defect of three novel SCN5A mutations in patients with Brugada syndrome

  • Original language description

    Three new heterozygous mutations were detected in patients with Brugada syndrome in SCN5A gene coding the alpha-subunit of sodium channel, two of them frameshift mutations with complete loss of function and one missense mutation with decreased sodium current and impaired inactivation gating.

  • Czech name

  • Czech description

Classification

  • Type

    O - Miscellaneous

  • CEP classification

    ED - Physiology

  • OECD FORD branch

Result continuities

  • Project

  • Continuities

    Z - Vyzkumny zamer (s odkazem do CEZ)

Others

  • Publication year

    2006

  • Confidentiality

    S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů