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Jervellov-Lange Nielsenov syndróm

  1. Subject h.Jervellov-Lange Nielsenov syndróm
    Subject h.Jervell-Lange Nielsen Syndrome
    Scope note in EnglishA form of long QT syndrome that is associated with congenital deafness. It is characterized by abnormal cardioelectrophysiology involving the VOLTAGE-GATED POTASSIUM CHANNEL. It results from mutation of KCNQ1 gene (Subtype 1 or JLN1) or the KCNE1 gene (Subtype 2 or JLN2).
    See also reference (FX) in Slovak kanály draslíkové, typ KCNQ1
    See also reference (FX) in English KCNQ1 Potassium Channel
    Links (1) - MeSH descriptor
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Number of the records: 1  

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