Functional defect of three novel SCN5A mutations in patients with Brugada syndrome
| Authors | |
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| Year of publication | 2006 |
| Type | Conference abstract |
| MU Faculty or unit | |
| Citation | |
| Description | Three new heterozygous mutations were detected in patients with Brugada syndrome in SCN5A gene coding the alpha-subunit of sodium channel, two of them frameshift mutations with complete loss of function and one missense mutation with decreased sodium current and impaired inactivation gating. |
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