Functional defect of three novel SCN5A mutations in patients with Brugada syndrome

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Authors

BÉBAROVÁ Markéta JONGBLOED Roselie GEELEN Jan TIMMERMANS Carl ARENS Yvonne VOLDERS Paul RODRIGUEZ Luz-Maria

Year of publication 2006
Type Conference abstract
MU Faculty or unit

Faculty of Medicine

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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