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...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Robyns, T, Nuyens, D, Van Casteren, L, Corveleyn, A, De Ravel, T, Heidbuchel, H, Willems, R
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Indian Heart Rhythm Society 2014
Pynciau:
Case Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4032780/
https://ncbi.nlm.nih.gov/pubmed/24948852
Tagiau: Ychwanegu Tag
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