Targeted capture sequencing in a large LQTS family reveals a new pathogenic mutation c.2038delG in KCNH2 initially missed due to allelic dropout

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作者： Robyns, Tomas ^[1] ; Kuiperi, Cuno ^[2] ; Willems, Rik ^[3] ; Corveleyn, Anniek ; Nuyens, Dieter

作者单位： Univ Hosp Leuven, Dept Human Genet, B-3000 Leuven, Belgium ^[1] Ziekenhuis Oost Limburg, Dept Cardiol, Genk, Belgium ^[2] Univ Hosp Leuven, Dept Cardiovasc Dis, B-3000 Leuven, Belgium ^[3]

关键词 Long QT syndrome KCNH2 next generation sequencing allelic dropout repeat genetic testing

发布时间 2017-04-05

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Acta Cardiologica

2015年70卷6期

747-749页

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Targeted capture sequencing in a large LQTS family reveals a new pathogenic mutation c.2038delG in KCNH2 initially missed due to allelic dropout

Acta Cardiologica

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Acta Cardiologica

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Targeted capture sequencing in a large LQTS family reveals a new pathogenic mutation c.2038delG in KCNH2 initially missed due to allelic dropout

Acta Cardiologica

相似文献

Acta Cardiologica

相关期刊

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