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Dominant-negative effect of SCN5A N-terminal mutations through the interaction of Na(v)1.5 α-subunits.
Cardiovasc Res. 2012 Oct 1;96(1):53-63. doi: 10.1093/cvr/cvs211. Epub 2012 Jun 27.
Cardiovasc Res. 2012.
PMID: 22739120
Free PMC article.
A truncating SCN5A mutation combined with genetic variability causes sick sinus syndrome and early atrial fibrillation.
Ziyadeh-Isleem A, Clatot J, Duchatelet S, Gandjbakhch E, Denjoy I, Hidden-Lucet F, Hatem S, Deschênes I, Coulombe A, Neyroud N, Guicheney P.
Ziyadeh-Isleem A, et al.
Heart Rhythm. 2014 Jun;11(6):1015-1023. doi: 10.1016/j.hrthm.2014.02.021. Epub 2014 Feb 25.
Heart Rhythm. 2014.
PMID: 24582607
Free PMC article.
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A common SCN5A polymorphism modulates the biophysical defects of SCN5A mutations.
Shinlapawittayatorn K, Du XX, Liu H, Ficker E, Kaufman ES, Deschênes I.
Shinlapawittayatorn K, et al.
Heart Rhythm. 2011 Mar;8(3):455-62. doi: 10.1016/j.hrthm.2010.11.034. Epub 2010 Nov 23.
Heart Rhythm. 2011.
PMID: 21109022
Free PMC article.
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A novel strategy using cardiac sodium channel polymorphic fragments to rescue trafficking-deficient SCN5A mutations.
Shinlapawittayatorn K, Dudash LA, Du XX, Heller L, Poelzing S, Ficker E, Deschênes I.
Shinlapawittayatorn K, et al.
Circ Cardiovasc Genet. 2011 Oct;4(5):500-9. doi: 10.1161/CIRCGENETICS.111.960633. Epub 2011 Aug 12.
Circ Cardiovasc Genet. 2011.
PMID: 21840964
Free PMC article.
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