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A novel mutation in KCNQ1 associated with a potent dominant negative effect as the basis for the LQT1 form of the long QT syndrome.
Aizawa Y, Ueda K, Scornik F, Cordeiro JM, Wu Y, Desai M, Guerchicoff A, Nagata Y, Iesaka Y, Kimura A, Hiraoka M, Antzelevitch C. Aizawa Y, et al. Among authors: desai m. J Cardiovasc Electrophysiol. 2007 Sep;18(9):972-7. doi: 10.1111/j.1540-8167.2007.00889.x. Epub 2007 Jul 26. J Cardiovasc Electrophysiol. 2007. PMID: 17655673 Free PMC article.
Biophysical and molecular characterization of a novel de novo KCNJ2 mutation associated with Andersen-Tawil syndrome and catecholaminergic polymorphic ventricular tachycardia mimicry.
Barajas-Martinez H, Hu D, Ontiveros G, Caceres G, Desai M, Burashnikov E, Scaglione J, Antzelevitch C. Barajas-Martinez H, et al. Among authors: desai m. Circ Cardiovasc Genet. 2011 Feb;4(1):51-7. doi: 10.1161/CIRCGENETICS.110.957696. Epub 2010 Dec 10. Circ Cardiovasc Genet. 2011. PMID: 21148745 Free PMC article.
3,712 results