Informace o publikaci

Functional characteristics of mutations identified in patients with long QT syndrome type 1, T309I and R562S

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BÉBAROVÁ Markéta ŠVECOVÁ Olga BAIAZITOVA Larisa POLICAROVÁ Marcela HOŠEK Jan NOVOTNÝ Tomáš

Rok publikování 2019
Druh Konferenční abstrakty
Fakulta / Pracoviště MU

Lékařská fakulta

Citace
Popis Long QT syndrome type 1 (LQT1), the most often diagnosed inherited arrhythmogenic syndrome, is associated with mostly heterozygous loss-of-function mutations in the KCNQ1 gene. This gene encodes structure of the alpha-subunit (Kv7.1 protein) of slow delayed rectifier potassium current (IKs), an important repolarizing current, especially during increased sympathetic stimulation.
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