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Article

p.N1380del mutation in the pore-forming region of SCN5A gene is associated with cardiac conduction disturbance and ventricular tachycardia.

Acta biochimica et biophysica Sinica - 1 Mar 2017

Yang Zhen, Lu Danbo, Zhang Lei, Hu Jialu, Nie Zhenning, Xie Chang, Qiu Fang, Cheng Hua, Yan Yan

Abstract excerpt

Cardiac sodium channel plays a key role in the fast depolarization and maintenance of impulse conduction in cardiomyocytes. Mutations of SCN5A gene can lead to many types of arrhythmias. A 14-year-old boy with familial paternal history of sudden unexpected nocturnal death was admitted to hospital with recurrent syncope. A cardiac channelopathy was suspected and a pathogenic ion channel was searched for mutation...

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PMID: 28159958
DOI: 10.1093/abbs/gmx003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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