1、2和3号外显子被替换了新插入的neo cassette。这个缺失涉及了起始翻译位点和编码环域的exon。蛋白产物缺失通过在腓肠肌提取物中进行 Western blot 分析得到了确认(来源:J:132185)
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Exons 1, 2 and 3 were replaced with a neo cassette. This deletion spans the translation initiation site and the RING domain encoding exon. The absence of protein product was confirmed by western blot analysis on tibialis muscle extrtacts. (J:132185)