Dysfunkce na podkladě mutace R562S asociované se syndromem dlouhého QT typu 1

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Title in English Dysfunction based on R562S mutation associated with long QT syndrome type 1
Authors

ŠVECOVÁ Olga KULA Roman CHMELÍKOVÁ Larisa HOŠEK Jan SYNKOVÁ Iva NOVOTNÝ Tomáš BÉBAROVÁ Markéta

Year of publication 2021
Type Conference abstract
MU Faculty or unit

Faculty of Medicine

Citation
Description R562S mutation may be the founder variant of long QT syndrome in our region. The loss-of-funtion character of the variant is accompanied by impaired reactivity to beta-adrenergic stimulation.
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