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Developmentally Regulated SCN5A Splice Variant Potentiates Dysfunction of a Novel Mutation Associated with Severe Fetal Arrhythmia

BACKGROUND: Congenital long-QT syndrome (LQTS) may present during fetal development and can be life-threatening. The molecular mechanism for the unusual early onset of LQTS during fetal development is unknown. OBJECTIVE: We sought to elucidate the molecular basis for severe fetal LQTS presenting at...

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Auteurs principaux: Murphy, Lisa L., Moon-Grady, Anita J., Cuneo, Bettina F., Wakai, Ronald T., Yu, Suhong, Kunic, Jennifer D., Benson, D. Woodrow, George, Alfred L.
Format: Artigo
Langue:Inglês
Publié: 2011
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Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3292693/
https://ncbi.nlm.nih.gov/pubmed/22064211
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.hrthm.2011.11.006
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