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LQT5 masquerading as LQT2: a dominant negative effect of KCNE1-D85N rare polymorphism on KCNH2 current
AIMS: KCNE1 encodes an auxiliary subunit of cardiac potassium channels. Loss-of-function variations in this gene have been associated with the LQT5 form of the long QT syndrome (LQTS), secondary to reduction of I(Ks) current. We present a case in which a D85N rare polymorphism in KCNE1 is associated...
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| 主要な著者: | , , , , , , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Oxford University Press
2011
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| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3180238/ https://ncbi.nlm.nih.gov/pubmed/21712262 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/europace/eur184 |
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