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. 2004 May;41(5):e66. doi: 10.1136/jmg.2003.013300
The common SCN5A mutation R1193Q causes LQTS-type electrophysiological alterations of the cardiac sodium channel
Q Wang
, S Chen
, Q Chen
, X Wan
, J Shen
, G Hoeltge
, A Timur
, M Keating
, G Kirsch
Q Wang
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S Chen
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Q Chen
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X Wan
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J Shen
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G Hoeltge
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A Timur
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M Keating
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G Kirsch
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PMCID: PMC1618878 NIHMSID: NIHMS12082 PMID: 15121794
See letter "R1193Q of SCN5A, a Brugada and long QT mutation, is a common polymorphism in Han Chinese" in volume 42 on page e7.