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Mutations in a dominant-negative isoform correlate with phenotype in inherited cardiac arrhythmias.

The long QT syndrome is characterized by prolonged cardiac repolarization and a high risk of sudden death. Mutations in the KCNQ1 gene, which encodes the cardiac KvLQT1 potassium ion (K+) channel, cause both the autosomal dominant Romano-Ward (RW) syndrome and the recessive Jervell and Lange-Nielsen...

詳細記述

保存先:
書誌詳細
主要な著者: Mohammad-Panah, R, Demolombe, S, Neyroud, N, Guicheney, P, Kyndt, F, van den Hoff, M, Baró, I, Escande, D
フォーマット: Artigo
言語:Inglês
出版事項: 1999
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377825/
https://ncbi.nlm.nih.gov/pubmed/10090886
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