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

Švecová,  Olga; Kula,  Roman; Chmelíková, Larisa; Hošek,  Jan; Synková,  Iva; Novotný,  Tomáš; Bébarová,  Markéta

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.
Related projects:	Kardiovaskulární systém: od iontového kanálu k celotělovému modelu