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Characterization of a novel LQT3 variant with a selective efficacy of mexiletine treatment

Pathogenic variants in the human SCN5A gene encoding the a-subunit of the principle Na(+) channel (Nav1.5) are associated with long QT syndrome (LQTS) 3. LQT3 patients display variable responses to Na(+) channel blockers demanding for the development of variant-specific therapeutic strategies. Here...

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Detalles Bibliográficos
Autores principales: Kim, Hyun-Ji, Kim, Bok-Geon, Park, Jong Eun, Ki, Chang-Seok, Huh, June, Youm, Jae Boum, Kang, Jong-Sun, Cho, Hana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6736863/
https://www.ncbi.nlm.nih.gov/pubmed/31506521
http://dx.doi.org/10.1038/s41598-019-49450-0