从2号外显子到4号外显子的区域被删除,导致在6号外显子处提前终止。蛋白质表达的缺失通过在肝提取物中进行 Western blot 分析得到了确认。(来源:J:158295)
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Exons 2 through 4 were deleted resulting in a premature termination in exon 6. The absence of protein expression was confirmed by western blot analysis on liver extracts. (J:158295)