splice site短语¹⁸⁰⁰⁹⁸⁺¹ 基本例句 剪接位点 Conclusions No functional FANCA protein was found in these3 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。 cnki