Wilson's disease is caused by defect in:: (A) ATP 7A mutation, (B) ATP 7B mutation, (C) Ceruloplasmin, (D) ATP 7C mutation
Answer is B. b. ATP 7B mutation(Ref: Nelson's 20/e p 1939-1940, Ghai 8/e p 320-321)The abnormal gene for Wilson disease is ATP7B on long arm of chromosome 13 (13q14.3)