A hERG mutation E1039X produced a synergistic lesion on I(Ks) together with KCNQ1-R174C mutation in a LQTS family with three compound mutations

Congenital long QT syndrome (LQTS) caused by compound mutations is usually associated with more severe clinical phenotypes. We identified a LQTS family harboring three compound mutations in different genes (KCNQ1-R174C, hERG-E1039X and SCN5A-E428K). KCNQ1-R174C, hERG-E1039X and SCN5A-E428K mutations...

Descripción completa

Detalles Bibliográficos
Autores principales: Wu, Jie, Mizusawa, Yuka, Ohno, Seiko, Ding, Wei-Guang, Higaki, Takashi, Wang, Qi, Kohjitani, Hirohiko, Makiyama, Takeru, Itoh, Hideki, Toyoda, Futoshi, James, Andrew F., Hancox, Jules C., Matsuura, Hiroshi, Horie, Minoru
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5814447/
https://www.ncbi.nlm.nih.gov/pubmed/29449639
http://dx.doi.org/10.1038/s41598-018-21442-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5814447/
https://www.ncbi.nlm.nih.gov/pubmed/29449639
http://dx.doi.org/10.1038/s41598-018-21442-6

Ejemplares similares