CRISPR/Cas9技术在exon 2产生了一个8个碱基的缺失,导致移码突变并造成早熟终止。对视网膜匀浆的 Western blot分析确认了纯合子中没有蛋白表达。(来源:J:280811)
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CRISPR/Cas9 technology generated an 8 bp deletion in exon 2 that causes a frameshift mutation and leads to premature termination. Western blot analysis on retinal lysates confirmed absence of protein in homozygotes. (J:280811)