Associated Papers
KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1.
Kapplinger JD et al.
Journal of Medical Genetics, 2017
Impact of Updated Diagnostic Criteria for Long QT Syndrome on Clinical Detection of Diseased Patients: Results From a Study of Patients Carrying Gene Mutations.
Hayashi K et al.
Jacc. Clinical Electrophysiology, 2016
Novel KCNQ1 splicing mutation in patients with forme fruste LQT1 aggravated by hypokalemia.
Imai M et al.
Journal of Cardiology, 2014
Identification and functional characterization of KCNQ1 mutations around the exon 7-intron 7 junction affecting the splicing process.
Tsuji-Wakisaka K et al.
Biochimica Et Biophysica Acta, 2011
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