The Wilson disease gene: spectrum of mutations and their consequences

Bull, P.C. & Cox, D.W. Wilson disease and Menkes disease: new handles on heavy-metal transport. Trends Genet. 10, 246–252 (1994).

Vulpe, C., Levinson, B., Whitney, S., Packman, S. & Gitschier, J. Isolation of a candidate for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nature Genet. 3, 7–13 (1993).

Chelly, J. et al. Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein. Nature Genet. 3, 14–19 (1993).

Mercer, J.F.B. et al. Isolation of a partial candidate gene for Menkes disease by positional cloning. Nature Genet. 3, 20–25 (1993).

Bull, P.C., Thomas, G.R., Rommens, J.M., Forbes, J.R. & Cox, D.W. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nature Genet. 5, 327–337 (1993).

Tanzi, R.E. et al. The Wilson disease gene Is a copper transporting ATPase with homology to the Menkes disease gene. Nature Genet. 5, 344–350 (1993).

Ramezani Rad, M., Kirchrath, L. & Hollenberg, C.P. A putative P-type Cu2+−transporting ATPase gene on chromosome II of Saccharomyces cerevisiae. yeast 10, 1217–1225 (1994).

Danks, D.M. Disorders of copper transport. In Metabolic basis of inherited disease (eds Beaudet, A. L., Sly, W. S. & Valle, D. ) 1411–1431 (McGraw-Hill, New York, (1989).

Houwen, R.H.J., Thomas, G.R., Roberts, E.A. & Cox, D.W. DNA markers for the diagnosis of Wilson disease. J. Hepatol. 17, 269–276 (1993).

Farrer, L.A. et al. Predictive testing for Wilson's disease using tightly linked and flanking DNA markers. Neurology 41, 992–999 (1991).

Cox, D.W., Fraser, F.C. & Sass-Kortsak, A. A genetic study of Wilson's disease: evidence for heterogeneity. Am. J. hum. Genet 24, 646–666 (1972).

Thomas, G.R., Bull, P.C., Roberts, E.A., Walshe, J.M. & Cox, D.W. Haplotype studies in Wilson disease. Am. J. hum. Genet 54, 71–78 (1994).

MacLennan, D.H., Clarke, D.M., Loo, T.W. & Skerjanc, I.S. Site-directed mutagenesis of the Ca2+ ATPase of sarcoplasmic reticulum. Acta Pnysiol. Scand. 146, 141–150 (1992).

Wu, J., Forbes, J.R., Shiene Chen, H. & Cox, D.W. The LEC rat has a deletion in the copper transporting ATPase gene homologous to the Wilson disease gene. Nature Genet. 7, 541–545 (1994).

Petrukhin, K.E., Lutsenko, S., Chernov, I., Ross, B.M., Kaplan, J.H. & Gilliam, T.C. Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/ function predictions. Hum. molec. Genet. 3, 1647–1656 (1994).

Tanner, M.S. & Portmann, B. Indian childhood cirrhosis. Arch. Dis. Child. 56, 4–6 (1981).

Kaler, S.G. et al. Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. Nature Genet. 8, 195–202 (1994).

Das, S., Levinson, B., Whitney, S., Vulpe, C., Packman, S. & Gitschier, J. Diverse mutations in patients with Menkes disease often lead to exon skipping. Am. J. hum. Genet. 55, 883–889 (1994).

Byth, B.C., Thomas, G.R., Hofland, N. & Cox, D.W. Application of inverse PCR to isolation of end probes from cosmids. Nucl. Acids Res, 22, 1766–1767 (1994).

Thomas, G.R. et al. Allelic association and linkage studies in Wilson disease. Hum. molec. Genet. 2, 1401–1405 (1993).

Miller, S.A., Dykes, D.D. & Polesky, H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucl. Acids Res. 16, 1215 (1988).