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

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dc.contributor.authorMedeiros-Domingo, Argelia
dc.contributor.authorTan, Bi-Hua
dc.contributor.authorCrotti, Lia
dc.contributor.authorTester, David J
dc.contributor.authorEckhardt, Lee
dc.contributor.authorCuoretti, Alessandra
dc.contributor.authorKroboth, Stacie L
dc.contributor.authorSong, Chunhua
dc.contributor.authorZhou, Qing
dc.contributor.authorKopp, Doug
dc.contributor.authorSchwartz, Peter J
dc.contributor.authorMakielski, Jonathan C
dc.contributor.authorAckerman, Michael J
dc.date.accessioned2020-02-06T15:47:07Z
dc.date.available2020-02-06T15:47:07Z
dc.date.issued2010-09-27
dc.description.abstractJ 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
dc.identifier.urihttp://dx.doi.org/10.1016/j.hrthm.2010.06.016
dc.identifier.urihttps://lib.digitalsquare.io/xmlui/handle/123456789/794
dc.relation.uriHeart rhythm : the official journal of the Heart Rhythm Society
dc.titleGain-of-function mutation S422L in the KCNJ8-encoded cardiac K(ATP) channel Kir6.1 as a pathogenic substrate for J-wave syndromes.en
dcterms.abstractJ 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
dcterms.contributorMedeiros-Domingo, Argelia
dcterms.contributorTan, Bi-Hua
dcterms.contributorCrotti, Lia
dcterms.contributorTester, David J
dcterms.contributorEckhardt, Lee
dcterms.contributorCuoretti, Alessandra
dcterms.contributorKroboth, Stacie L
dcterms.contributorSong, Chunhua
dcterms.contributorZhou, Qing
dcterms.contributorKopp, Doug
dcterms.contributorSchwartz, Peter J
dcterms.contributorMakielski, Jonathan C
dcterms.contributorAckerman, Michael J
dcterms.identifierhttp://dx.doi.org/10.1016/j.hrthm.2010.06.016
dcterms.relationHeart rhythm : the official journal of the Heart Rhythm Society
dcterms.titleGain-of-function mutation S422L in the KCNJ8-encoded cardiac K(ATP) channel Kir6.1 as a pathogenic substrate for J-wave syndromes.en
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