Exome Sequencing Identifies a Novel LMNA Splice-Site Mutation and Multigenic Heterozygosity of Potential Modifiers in a Family with Sick Sinus Syndrome, Dilated Cardiomyopathy, and Sudden Cardiac Death

The goals are to understand the primary genetic mechanisms that cause Sick Sinus Syndrome and to identify potential modifiers that may result in intrafamilial variability within a multigenerational family. The proband is a 63-year-old male with a family history of individuals (>10) with sinus nod...

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Detalles Bibliográficos
Autores principales: Zaragoza, Michael V., Fung, Lianna, Jensen, Ember, Oh, Frances, Cung, Katherine, McCarthy, Linda A., Tran, Christine K., Hoang, Van, Hakim, Simin A., Grosberg, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4868298/
https://www.ncbi.nlm.nih.gov/pubmed/27182706
http://dx.doi.org/10.1371/journal.pone.0155421

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