Stem Cell ResearchKCNH2 (Potassium Voltage-Gated Channel Subfamily H Member) encodes a voltage-activated potassium channel role as rapidly activating-delayed rectifier potassium channel that plays an essential role in the final repolarization of the ventricular action ...
Baiqiang Wang +8 more
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Анналы аритмологии, 2012 Standard and multichannel electrocardiography (ECG), 12 channel Holter ECG daily monitoring, genealogic anamnesis acquisition and electrocardiograms assessment for every member of the family including available distant relations were carried out, cases of sudden death in the family were revealed.
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Örökletes szívbetegségek klinikai és experimentális vizsgálata: genetikai analízis különböző eredetű szívizombetegségekben = Clinical and experimental examinations in inherited cardiac disorders: genetic analysis of heart muscle diseases of various origin [PDF]
, 2007 Munkatervünkben az örökletes szívbetegségek klinikai és experimentális vizsgálatát tűztük ki célul. Munkánk során, Magyarországon elsőként, sikerrel azonosítottunk kóroki mutációkat fenti betegcsoportokban.
Csanády, Miklós +4 more
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Andersen-Tawil syndrome: Clinical presentation and predictors of symptomatic arrhythmias – Possible role of polymorphisms K897T in KCNH2 and H558R in SCN5A gene [PDF]
, 2017 Michalina Krych +13 more
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Calibrated Functional Data Decreases Clinical Uncertainty for KCNH2 -related Long QT Syndrome [PDF]
Chai‐Ann Ng +9 more
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LQT5 masquerading as LQT2: a dominant negative effect of KCNE1-D85N rare polymorphism on KCNH2 current [PDF]
, 2011 Eyal Nof +12 more
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Integration of validated functional evidence to support the pathogenicity of KCNH2 variants
Genetics in Medicine OpenFunctional investigation of genetic variants found in long QT syndrome can provide evidence that is needed to confirm the genetic diagnosis and establish the cause of the condition. We performed functional assessment to determine the z-score, using a clinically calibrated automated patch clamp assay, for 2 missense KCNH2 variants found in 2 families ...
Reema W. Aljassar +5 more
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Интервал QT в кардиологической клинике [PDF]
, 2011 Вісник Харківського національного університету імені В. Н. Каразіна, серія «Медицина». – 2009. – № 879. – Випуск 18. – С. 73-96.Интервал QT, отражающий процессы деполяризации и реполяризации миокарда и, в конечном итоге, функцию изгнания желудочков ...
Кулик, В.Л. +1 more
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