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A splice site mutation in hERG leads to cryptic splicing in human long QT syndrome

Mutations in the human ether-a-go-go-related gene (hERG) cause type 2 long QT syndrome. In this study, we investigated the mechanism of the hERG splice site mutation 2398+1G>C and the genotype-phenotype relationship of mutation carriers in three unrelated kindreds with long QT syndrome. The effec...

詳細記述

保存先:
書誌詳細
主要な著者: Gong, Qiuming, Zhang, Li, Moss, Arthur J., Vincent, G. Michael, Ackerman, Michael J., Robinson, Jeffrey C., Jones, Melanie A., Tester, David J., Zhou, Zhengfeng
フォーマット: Artigo
言語:Inglês
出版事項: 2008
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2346779/
https://ncbi.nlm.nih.gov/pubmed/18272172
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.yjmcc.2008.01.002
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