在第24外显子中,一个28bp序列被lacZ-neo cassette替换。这个插入位点干扰了催化域的早期部分。蛋白表达缺失通过神经上皮组织提取物的 Western blot 分析得到了确认。(来源:J:154140)
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A 28 bp sequence in exon 24 was replaced with a lacZ-neo cassette. This insertion disrupts the early portion of the catalytic domain. The absence of protein expression was confirmed by western blot analysis on neuroepithelium extracts. (J:154140)