There were some difference of mutation spots among every subtype of EBS. For example, the mutations mainly located in Linker 1 2 domain of K5/14 in Weber Cockayne EBS(WC EBS).

  • EBS的各个亚型突变发生部位有一定差异,其中Weber-Cockayne亚型(WC-EBS)突变多位于K5/K14的连接区L1-2。
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