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A recessive C-terminal Jervell and Lange-Nielsen mutation of the KCNQ1 channel impairs subunit assembly

The LQT1 locus (KCNQ1) has been correlated with the most common form of inherited long QT (LQT) syndrome. LQT patients suffer from syncopal episodes and high risk of sudden death. The KCNQ1 gene encodes K(v)LQT1 α–subunits, which together with auxiliary IsK (KCNE1, minK) subunits form IK(s) K(+) cha...

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書誌詳細
主要な著者: Schmitt, Nicole, Schwarz, Martin, Peretz, Asher, Abitbol, Ilane, Attali, Bernard, Pongs, Olaf
フォーマット: Artigo
言語:Inglês
出版事項: Oxford University Press 2000
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC305570/
https://ncbi.nlm.nih.gov/pubmed/10654932
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/emboj/19.3.332
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