Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk

Creators: Chouabe, C.; Neyroud, Nathalie; Richard, P; Denjoy, I; Hainque, B; Romey, G.; Drici, M; Guicheney, P; Barhanin, J.

Other:: Institut de pharmacologie moléculaire et cellulaire (IPMC) ; Université Nice Sophia Antipolis (1965 - 2019) (UNS) ; COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS)

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We report the functional expression of four KCNQ1 mutations affecting arginine residues and resulting in Romano-Ward (RW) and the Jervell and Lange-Nielsen (JLN) congenital long QT syndromes.

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Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk

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Abstract

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