Mutations of SCN4A gene cause different diseases: 2 case reports and literature review

SCN4A encodes the Nav1.4 channel and mutations in SCN4A lead to different ionic channelopathies. In this study, one sporadic individual of periodic paralysis, one paramyotonia family and 200 normal healthy controls are enrolled. Genomic DNA was extracted from peripheral blood leukocytes, followed by...

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Vydáno v:Channels (Austin)
Hlavní autoři: Liu, Xiao-li, Huang, Xiao-jun, Luan, Xing-hua, Zhou, Hai-yan, Wang, Tian, Wang, Jing-yi, Chen, Sheng-di, Tang, Hui-dong, Cao, Li
Médium: Artigo
Jazyk:Inglês
Vydáno: Taylor & Francis 2015
Témata:
Research Papers
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4594454/
https://ncbi.nlm.nih.gov/pubmed/25839108
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/19336950.2015.1012945
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