A definite diagnosis of Wilson disease was made in all 106 patients based on a broad combination of laboratory tests, liver biopsy and clinical features including 24 h urine copper, a severe coagulopathy, serum level of ceruloplasmin, Kayser-Fleischer rings (KF rings), presence of ATP7B gene mutation, and neurological symptoms. The gene discussed is ATP7B; the disease is blood coagulation disease.