The results verify further that K5/K14 L12 domain is a preferred region within which many EBS-WC mutations are located. and mutations in several different residues of K5 /K14 L12 domain could lead to EBS-WC.

• 进一步证明K5/K14的L12区是许多EBS－Weber－Cockayne突变定位的区域，K5/K14的L12区的多个位点的突变均可以引起EBS－Weber－Cockayne的发生。