Synonymous nucleotide modification of the KCNH2 gene affects both mRNA characteristics and translation of the encoded hERG ion channel [PDF]
, 2018 Alexander C. Bertalovitz +2 more
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KCNH2 mutation c.3099_3112del causes congenital long QT syndrome type 2 with gender differences
, 2023 Zun‐Ping Ke +8 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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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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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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ニュウヨウジ トツゼンシ ショウコウグン ニ オケル シンキン サイボウ イオン チャンネル イデンシ イジョウ [PDF]
, 2009 論文内容要旨学位取得大学:山形大学 ; 報告番号:医博乙第553号 ; 学位の種類: 論文 ; 学位の種別:博士 ...
小田切 徹州
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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
openaire +3 more sources
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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