Publication details

Four Novel Mutations in Patients with Brugada Syndrome

Authors

BÉBAROVÁ Markéta JONGBLOED RJ TIMMERMANS C ARENS YH VOLDERS PGA RODRIGUEZ LM

Year of publication 2005
Type Appeared in Conference without Proceedings
MU Faculty or unit

Faculty of Medicine

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.

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