一个452bp的缺失事件删除了ACER2基因的整个第二外显子以及临近的大部分内含子,导致 Western blot 分析在纯合子中未能检测到ACER2蛋白。(来源:J:256650)
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A 452bp deletion removed the entire exon 2 and a large portion of the adjacent intron and western blot analysis failed to detect ACER2 protein in homozygotes. (J:256650)