【遗传】 移码突变。
-
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。