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Publication details
Four Novel Mutations in Patients with Brugada Syndrome
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Year of publication | 2005 |
Type | Appeared in Conference without Proceedings |
MU Faculty or unit | |
Citation | |
Description | We identified four novel SCN5A mutations in patients with BrS out of eighteen patients tested (22% novel positive identification). A mutation in an untranslated region of the SCN5A gene is recognized, which correlates with a severe clinical phenotype. Thus, our data stress the importance of genetic testing of noncoding regions in BrS. |