| Literature DB >> 18692916 |
Hideki Itoh, Tomoko Sakaguchi, Takashi Ashihara, Wei-Guang Ding, Iori Nagaoka, Yuko Oka, Yuko Nakazawa, Takenori Yao, Hikari Jo, Makoto Ito, Kazufumi Nakamura, Tohru Ohe, Hiroshi Matsuura, Minoru Horie.
Abstract
In a 34-year-old man showing short QT interval (QTc 329 ms), we identified a novel C-terminal KCNH2 mutation, R1135H. Using a heterologous expression system with CHO cells, the mutant channels were found to display a significantly slow deactivation, which resulted in a gain-of-function for reconstituted 'I(Kr)' channels. This mutation could modify clinical phenotypes for this patient.Entities:
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Year: 2008 PMID： 18692916 DOI： 10.1016/j.ijcard.2008.05.050
Source DB: PubMed Journal: Int J Cardiol ISSN： 0167-5273 Impact factor: 4.164