Wilson disease is an autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B qene that encodes a P-type copper transportinq ATPase. Mutations in the ATP7B qene lead to the defection of the transmembrane transporter so that it can not metabolize copper effectively.The aim of this study was to screen and detect mutations of the ATP7B qene in 11 unrelated Wilson disease patients. Mutations were screened and detected by DNA seQuencinq. The results showed that 11/11 patients were found to have mutation, in which 3 were novel mutations (c.47-48 ins CGCCG, c.117ins118CGGCG in exon 1 and c.471TCG TAG in exon 2). The most common mutation was in exon 1 with 6/19 cases, followed by the mutation in exon 10 with 4/19 cases and mutation in exon 3 with 4/19 cases.