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Early somatic mosaicism is a rare cause of long-QT syndrome.
Priest JR, Gawad C, Kahlig KM, Yu JK, O'Hara T, Boyle PM, Rajamani S, Clark MJ, Garcia ST, Ceresnak S, Harris J, Boyle S, Dewey FE, Malloy-Walton L, Dunn K, Grove M, Perez MV, Neff NF, Chen R, Maeda K, Dubin A, Belardinelli L, West J, Antolik C, Macaya D, Quertermous T, Trayanova NA, Quake SR, Ashley EA. Priest JR, et al. Among authors: belardinelli l. Proc Natl Acad Sci U S A. 2016 Oct 11;113(41):11555-11560. doi: 10.1073/pnas.1607187113. Epub 2016 Sep 28. Proc Natl Acad Sci U S A. 2016. PMID: 27681629 Free PMC article.
Mutations in SCN10A are responsible for a large fraction of cases of Brugada syndrome.
Hu D, Barajas-Martínez H, Pfeiffer R, Dezi F, Pfeiffer J, Buch T, Betzenhauser MJ, Belardinelli L, Kahlig KM, Rajamani S, DeAntonio HJ, Myerburg RJ, Ito H, Deshmukh P, Marieb M, Nam GB, Bhatia A, Hasdemir C, Haïssaguerre M, Veltmann C, Schimpf R, Borggrefe M, Viskin S, Antzelevitch C. Hu D, et al. Among authors: belardinelli l. J Am Coll Cardiol. 2014 Jul 8;64(1):66-79. doi: 10.1016/j.jacc.2014.04.032. J Am Coll Cardiol. 2014. PMID: 24998131 Free PMC article.
387 results