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Reduced Penetrance and Variable Expression of SCN5A Mutations and the Importance of Co-inherited Genetic Variants: Case Report and Review of the Literature
Mutations in the SCN5A gene are responsible for multiple phenotypical presentations including Brugada syndrome, long QT syndrome, progressive familial heart block, sick sinus syndrome, dilated cardiomyopathy, lone atrial fibrillation and multiple overlap syndromes. These different phenotypic express...
Autores principales: | Robyns, T, Nuyens, D, Van Casteren, L, Corveleyn, A, De Ravel, T, Heidbuchel, H, Willems, R |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Indian Heart Rhythm Society
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4032780/ https://www.ncbi.nlm.nih.gov/pubmed/24948852 |
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