分子异常描述为在2970位有6个碱基的缺失和1个碱基的插入(T)(未提供参照序列)。 Western blot分析证实了在敲除小鼠的脑组织匀浆中,蛋白质完全缺失。(来源:J:288382)
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The molecular lesion is described as a 6-base pair deletion and 1 base pair insertion (T) at 2970 (no reference sequence given). Western blot analysis confirmed the complete loss of protein in brain lysates from knockout mice. (J:288382)