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Autosomal recessive paediatric sick sinus syndrome associated with novel compound mutations in SCN5A.

作者信息

Kodama Takahide, Serio Alessandra, Disertori Marcello, Bronzetti Gabriele, Diegoli Marta, Narula Nupoor, Grasso Maurizia, Mazzola Silvia, Arbustini Eloisa

出版信息

Int J Cardiol. 2013 Sep 10;167(6):3078-80. doi: 10.1016/j.ijcard.2012.11.062. Epub 2012 Nov 28.

DOI:10.1016/j.ijcard.2012.11.062
PMID:23200271
Abstract
摘要

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Genetics and clinics: current applications, limitations, and future developments.遗传学与临床:当前应用、局限性及未来发展
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Dysfunctional Nav1.5 channels due to SCN5A mutations.功能失调的 Nav1.5 通道由于 SCN5A 突变。
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