frame-shift mutation [遗] 移码突变 ; 帧转移突变
·2,447,543篇论文数据，部分数据来源于NoteExpress
Conclusions No functional FANCA protein was found in these 3 cases of FA-A, and intragenic deletion, frame shift and splice site mutation were the major pathogenic mutations found in FANCA gene.
结论3例FA-A型患者均无功能性FANCA蛋白表达；基因缺失、移码突变和剪切位点突变是FANCA基因的主要失活方式。
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