Informace o publikaci
Four Novel Mutations in Patients with Brugada Syndrome
| Autoři | |
|---|---|
| Rok publikování | 2005 |
| Druh | Další prezentace na konferencích |
| Fakulta / Pracoviště MU | |
| Citace | |
| Popis | 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. |