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遗传病CNV Seq+WES明确多发丛状神经纤维瘤病因,检出最小9p21.3微缺失 ...
两个主要基因——细胞周期依赖性激酶抑制因子2A和2B(CDKN2A与CDKN2B)连续定位于9p21.3区域:CDKN2A通过可变阅读框编码p16INK4A和p14ARF,而CDKN2B编码p15INK4B。这些蛋白作为抑癌因子,通过视网膜母细胞瘤(Rb)和p53通路协同作用阻止细胞周期进程。此外,与CDKN2B序列 ...
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