第18外显子被替换成新插入的neo cassette。蛋白活性缺失通过酶学测定得到确认,且在 Western blot 分析中未检测到糖基化的α-dystroglycan超家族成分。(来源:J:144928)
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Exon 18 was replaced with a neo cassette. The absence of protein activity was confirmed by enzymatic assay and the lack of the glycosylated alpha-dystroglycan super moiety in western blot analysis. (J:144928)