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110:37533759 Patient V:10 Born with atrial tachycardia Echo : normal Died suddenly at 2 m Patient VI:1 Born with atrial tachycardia Electrical conversion at 20 d Echo at 1 m: normal Died suddenly at 18 m Patient VI:3 Born with AF and atrial tachycardia on Feb. 14, 2020 In sinus rhythm on propafenone, propranolo, aspirin Family member IV:17 and IV:18: died suddenly 是什么導(dǎo)致了此家系中早發(fā)、惡性房顫? 2 連鎖分析 9 Circulation, 2020 NUP155突變 R391H 10 NUP155 ?核孔復(fù)合體( nuclear pore plex)主要成分 11 核孔復(fù)合體負(fù)責(zé)大分子物質(zhì)在細(xì)胞核與細(xì)胞質(zhì)之間轉(zhuǎn)運(yùn) mRNA rRNA snRNA tRNA Transcription factors RNA polymerase Splicing factors DNA polym