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An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
Heart Rhythm. 2010 Jan;7(1):33-46. doi: 10.1016/j.hrthm.2009.09.069. Epub 2009 Oct 8.
Heart Rhythm. 2010.
PMID: 20129283
Free PMC article.
Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies.
Meregalli PG, Tan HL, Probst V, Koopmann TT, Tanck MW, Bhuiyan ZA, Sacher F, Kyndt F, Schott JJ, Albuisson J, Mabo P, Bezzina CR, Le Marec H, Wilde AA.
Meregalli PG, et al.
Heart Rhythm. 2009 Mar;6(3):341-8. doi: 10.1016/j.hrthm.2008.11.009. Epub 2008 Nov 11.
Heart Rhythm. 2009.
PMID: 19251209
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Loss of function associated with novel mutations of the SCN5A gene in patients with Brugada syndrome.
Baroudi G, Napolitano C, Priori SG, Del Bufalo A, Chahine M.
Baroudi G, et al.
Can J Cardiol. 2004 Mar 15;20(4):425-30.
Can J Cardiol. 2004.
PMID: 15057319
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