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业已发现,细胞膜锚蛋白(ankyrin)-B基因(ANK2)突变可引起4型长QT综合征,而且患者家属易存在其他心律失常。但是有关ANK2变异体在大规模人群中的分布频率及其临床表型各异的分子机制还未完全阐明。更为重要的是,对于ANK2特异性变异者心脏表型严重程度不一致的问题,目前缺乏细胞?
It has been found that mutations in the ankyrin-B gene (ANK2) in the cell membrane can cause type 4 long QT syndrome and that other arrhythmias are easily present in the families of the patients. However, the molecular mechanisms by which ANK2 variants are distributed in a large population and their clinical phenotypes are not fully elucidated. More importantly, for the problem of inconsistent severity of cardiac phenotype in ANK2-specific mutants, is the current lack of cells?