Gain-of-function mutation S422L in the KCNJ8-encoded cardiac K ATP channel Kir6.1 as a pathogenic substrate for J-wave syndromes

Argelia Medeiros-Domingo, Bi Hua Tan, Lia Crotti, David J. Tester, Lee Eckhardt, Alessandra Cuoretti, Stacie L. Kroboth, Chunhua Song, Qing Zhou, Doug Kopp, Peter J. Schwartz, Jonathan C. Makielski, Michael J. Ackerman

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Medicine & Life Sciences