1. Bowcock AM, Farrer LA, Hebert JM, et al.: Eight closely linked loci place the Wilson disease locus within 13q14-q21. Am J Hum Genet 1988, 43:664–674. Initial studies showing localization to chromosome 13 that set the stage for identification of the gene for Wilson disease (see [2-4]).
2. Petrukhin K, Lutsenko S, Chernov I, et al.: Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/ function predictions. Hum Mol Genet 1994, 3:1647–1656.
3. Thomas GR, Forbes JR, Roberts EA, et al.: The Wilson disease gene: spectrum of mutations and their consequences. Nat Genet 1995, 9:210–217.
4. Yamaguchi Y, Heiny ME, Gitlin JD: Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease. Biochem Biophys Res Commun 1993, 197:271–277.
5. Schilsky ML, Stockert RJ, Sternlieb I: Pleiotropic effect of LEC mutation: a rodent model of Wilson’s disease. Am J Physiol. 1994, 266:G907-G913. These studies showed that the defect in the LEC rat is in biliary copper excretion, and not a failure of lysosomal delivery to bile. The dual function of the ATP7B gene to transport copper into endosomal/lysosomal vesicles and to Golgi for copper incorporation into ceruloplasmin was demonstrated.