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PMID 9570196 1998 New mutations in the KVLQT1 potassium channel that cause long-QT syndrome.
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PMID 9386136 1997 KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome.
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PMID 9323054 1997 Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome.
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PMID 16922724 2006 Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.
PMID 19808498 2009 Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.
PMID 9024139 1997 Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome.
PMID 18165683 2008 The KCNQ1 (Kv7.1) COOH terminus, a multitiered scaffold for subunit assembly and protein interaction.
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PMID 10220146 1999 High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: robust multiplex analysis and pattern-based identification of allelic variants.
PMID 12442276 2002 KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.
PMID 21810866 2011 HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).
PMID 16414944 2005 Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.
PMID 21241800 2011 Biophysical properties of mutant KCNQ1 S277L channels linked to hereditary long QT syndrome with phenotypic variability.