Whole-exome sequencing identifies Y1495X of SCN5A to be associated with familial conduction disease and sudden death

SCN5A mutations have been reported to underlie a variety of inherited arrhythmias, while the complex overlapping phenotype, especially with congenital heart disease (CHD), is rarely reported. The 48-year-old proband underwent a recent syncope during rest. A CHD (tetralogy of Fallot) and conduction d...

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Detalles Bibliográficos
Autores principales: Tan, Zhi-Ping, Xie, Li, Deng, Yao, Chen, Jin-Lan, Zhang, Wei-Zhi, Wang, Jian, Yang, Jin-Fu, Yang, Yi-Feng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5375973/
https://www.ncbi.nlm.nih.gov/pubmed/25010007
http://dx.doi.org/10.1038/srep05616

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5375973/
https://www.ncbi.nlm.nih.gov/pubmed/25010007
http://dx.doi.org/10.1038/srep05616

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