Mayo Clinic researchers identifed the promoter region of the Wilson's disease gene responsible for the regulation of its protein expression. Mayo researchers also developed the first clinical test for Wilson's disease mutation screen and Wilson's disease known mutation screening.
Researchers in Rochester are now conducting a population screening program to test the effectiveness of detecting Wilson's disease in asymptomatic children. The test requires just a few drops of blood from the child's finger to be collected on a paper card. Read news release.
See a list of publications by Mayo doctors on Wilson's disease on PubMed, a service of the National Library of Medicine.
Research descriptions of individual investigators: