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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2018
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Materias: | |
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 |
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