Phenotypic characterization of a family with long QT syndrome 13: A different type of variable penetrance

Heart Rhythm ◽  
2013 ◽  
Vol 10 (10) ◽  
pp. 1507-1508
Author(s):  
Vickas V. Patel
Keyword(s):  
Long Qt Syndrome ◽  
Phenotypic Characterization ◽  
Long Qt ◽  
Qt Syndrome ◽  
Variable Penetrance

scholarly journals Phenotypic Characterization of a Novel Long-QT Syndrome Mutation (R1623Q) in the Cardiac Sodium Channel

Circulation ◽  
1998 ◽  
Vol 97 (7) ◽  
pp. 640-644 ◽  
Author(s):  
Nicholas G. Kambouris ◽  
H. Bradley Nuss ◽  
David C. Johns ◽  
Gordon F. Tomaselli ◽  
Eduardo Marban ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Long Qt Syndrome ◽  
Phenotypic Characterization ◽  
Long Qt ◽  
Cardiac Sodium Channel ◽  
Qt Syndrome

scholarly journals Clinical, Genetic, and Biophysical Characterization of a Homozygous HERG Mutation Causing Severe Neonatal Long QT Syndrome

2003 ◽  
Vol 53 (5) ◽  
pp. 744-748 ◽  
Author(s):  
Walter H Johnson ◽  
Ping Yang ◽  
Tao Yang ◽  
Yung R Lau ◽  
Barbara A Mostella ◽  
...  
Keyword(s):  
Long Qt Syndrome ◽  
Clinical Genetic ◽  
Long Qt ◽  
Biophysical Characterization ◽  
Qt Syndrome

scholarly journals Biophysical characterization of a newSCN5Amutation S1333Y in a SIDS infant linked to long QT syndrome

FEBS Letters ◽  
2009 ◽  
Vol 583 (5) ◽  
pp. 890-896 ◽  
Author(s):  
Hai Huang ◽  
Gilles Millat ◽  
Claire Rodriguez-Lafrasse ◽  
Robert Rousson ◽  
Béatrice Kugener ◽  
...  
Keyword(s):  
Long Qt Syndrome ◽  
Long Qt ◽  
Biophysical Characterization ◽  
Qt Syndrome

scholarly journals Clinical and electrophysiological characterization of a novel mutation (F193L) in the KCNQ1 gene associated with long QT syndrome

2003 ◽  
Vol 104 (4) ◽  
pp. 377 ◽  
Author(s):  
Masato YAMAGUCHI ◽  
Masami SHIMIZU ◽  
Hidekazu INO ◽  
Hidenobu TERAI ◽  
Kenshi HAYASHI ◽  
...  
Keyword(s):  
Long Qt Syndrome ◽  
Novel Mutation ◽  
Long Qt ◽  
Kcnq1 Gene ◽  
Qt Syndrome ◽  
Electrophysiological Characterization
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