Key result
Genomic mapping of the KCNQ1 gene enabled the identification of 5 novel mutations in the C-terminal domain among patients with long-QT syndrome.
Population
Patients with Long-QT syndrome (LQTS) and human genomic DNA
Design
Other
Authors
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KCNQ1 mutations warrant screening in suspected JLNS; leaves open variant-specific arrhythmia risk stratification.
The determination of the KCNQ1 genomic structure and identification of C-terminal mutations provides essential tools for linkage analysis and mutation screening in Long-QT syndrome.
Neyroud et al. (1999) studied Long-QT syndrome (LQTS). KCNQ1 gene mutations was evaluated on Identification of novel mutations in the C-terminal part of KCNQ1. Genomic mapping of the KCNQ1 gene enabled the identification of 5 novel mutations in the C-terminal domain among patients with long-QT syndrome.
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