Objective To sequence the ATP7B gene in patients with Wilson's disease (WD) and to analyze the relationship between the mutations and WD. Methods The genomic DNA was obtained from the oral mucosal cells of 67 clinically diagnosed WD patients; PCR was used to amplify all the exons 5' end→ 3' end of ATP7B gene. And the PCR products were subjected to DNA direct sequencing for mutations. Results We found that the ATP7B gene mutation rate was 77.61%(52/67) in WD patients. Of these patients,16 had homozygote mutations (including 12 patients with Arg778Leu and 4 with Arg919Gly), 5 had complex mutations, and 31 had simple hetrozygote mutations. Five types of the ATP7B gene complex mutations were rarely reported in China. Conclusion We have identified 5 complex mutations of ATP7B gene, which might be related to the development and progression of WD and deserves further study.