Association of the hERG mutation with long-QT syndrome type 2, syncope and epilepsy

Mutations in the human ether-à-go-go-related gene (hERG) are responsible for long-QT syndrome (LQTS) type 2 (LQT2). In the present study, a heterozygous missense mutation (A561V) linked to LQT2, syncope and epilepsy was identified in the S5/pore region of the hERG protein. The mutation, A561V, was p...

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Detalles Bibliográficos
Autores principales: LI, GUOLIANG, SHI, RUI, WU, JINE, HAN, WENQI, ZHANG, AIFENG, CHENG, GONG, XUE, XIAOLIN, SUN, CHAOFENG
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2016
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4768985/
https://www.ncbi.nlm.nih.gov/pubmed/26847485
http://dx.doi.org/10.3892/mmr.2016.4859

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4768985/
https://www.ncbi.nlm.nih.gov/pubmed/26847485
http://dx.doi.org/10.3892/mmr.2016.4859

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