Novel missense variant in TTN cosegregating with familial atrioventricular block.
European Journal of Medical Genetics(2020)
摘要
Based on this study, TTN was identified as a potential novel candidate gene for autosomal dominant AVB; this study expands the mutational spectrum of TTN gene and is the first to implicate TTN mutations as AVB disease causing in a Chinese pedigree.
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关键词
Autosomal dominant inheritance,Atrioventricular block,TTN,Whole-exome sequencing
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