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Article

Cryptic 5' splice site activation in SCN5A associated with Brugada syndrome.

Journal of molecular and cellular cardiology - 1 Apr 2005

Hong Kui, Guerchicoff Alejandra, Pollevick Guido D, Oliva Antonio, Dumaine Robert, de Zutter Mark, Burashnikov Elena, Wu Yue Sheng, Brugada Josep, Brugada Pedro, Brugada Ramon

Abstract excerpt

The Brugada syndrome (BS) is characterized by ST segment elevation in the right precordial leads and sudden cardiac death. The disease is linked to mutations in SCN5A in approximately 20% of cases. We collected a large family with BS and have identified a novel intronic mutation. We performed the clinical, genetic, molecular and biophysical characterization of this disease-causing mutation. With direct sequencing...

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Identifiers

PMID: 15808832
DOI: 10.1016/j.yjmcc.2004.10.015

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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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