Browsing by Author "Tan, Bi-Hua"
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- ItemGain-of-function mutation S422L in the KCNJ8-encoded cardiac K(ATP) channel Kir6.1 as a pathogenic substrate for J-wave syndromes.(2010-09-27) Medeiros-Domingo, Argelia; Tan, Bi-Hua; Crotti, Lia; Tester, David J; Eckhardt, Lee; Cuoretti, Alessandra; Kroboth, Stacie L; Song, Chunhua; Zhou, Qing; Kopp, Doug; Schwartz, Peter J; Makielski, Jonathan C; Ackerman, Michael JJ wave syndromes have emerged conceptually to encompass the pleiotropic expression of J point abnormalities including Brugada syndrome BrS and early repolarization syndrome ERS KCNJ8 which encodes the cardiac K ATP Kir6 1 channel recently has been implicated in ERS following identification of the functionally uncharacterized missense mutation S422L