分子异常是一个50.8千碱基对的缺失,涉及所有编码外显子(从2到14号)。通过在纯合小鼠的提取物中进行 Western Blot 分析,证实了编码蛋白的缺失。(来源:J:258193)
查看原文 参与反馈
The molecular lesion is a 50.8 kbp deletion of all the coding exons (exons 2-14). Absence of the encoded protein was confirmed by western blotting analysis on extracts from homozygous mice. (J:258193)