-
1
-
-
0028242939
-
Wilson disease and Menkes disease: New handles on heavy-metal transport
-
Bull, P.C. & Cox, D.W. Wilson disease and Menkes disease: new handles on heavy-metal transport. Trends Genet. 10, 246-252 (1994).
-
(1994)
Trends Genet.
, vol.10
, pp. 246-252
-
-
Bull, P.C.1
Cox, D.W.2
-
2
-
-
0027446365
-
Isolation of a candidate for Menkes disease and evidence that it encodes a copper-transporting ATPase
-
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).
-
(1993)
Nature Genet.
, vol.3
, pp. 7-13
-
-
Vulpe, C.1
Levinson, B.2
Whitney, S.3
Packman, S.4
Gitschier, J.5
-
3
-
-
0027500142
-
Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein
-
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).
-
(1993)
Nature Genet.
, vol.3
, pp. 14-19
-
-
Chelly, J.1
-
4
-
-
0027475976
-
Isolation of a partial candidate gene for Menkes disease by positional cloning
-
Mercer, J.F.B. et al. Isolation of a partial candidate gene for Menkes disease by positional cloning. Nature Genet. 3, 20-25 (1993).
-
(1993)
Nature Genet.
, vol.3
, pp. 20-25
-
-
Mercer, J.F.B.1
-
5
-
-
0027452091
-
The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene
-
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).
-
(1993)
Nature Genet.
, vol.5
, pp. 327-337
-
-
Bull, P.C.1
Thomas, G.R.2
Rommens, J.M.3
Forbes, J.R.4
Cox, D.W.5
-
6
-
-
0027364961
-
The Wilson disease gene Is a copper transporting ATPase with homology to the Menkes disease gene
-
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).
-
(1993)
Nature Genet.
, vol.5
, pp. 344-350
-
-
Tanzi, R.E.1
-
7
-
-
0028131545
-
2+/-transporting ATPase gene on chromosome II of Saccharomyces cerevisiae
-
2+/-transporting ATPase gene on chromosome II of Saccharomyces cerevisiae. Yeast 10, 1217-1225 (1994).
-
(1994)
Yeast
, vol.10
, pp. 1217-1225
-
-
Ramezani Rad, M.1
Kirchrath, L.2
Hollenberg, C.P.3
-
8
-
-
0001504685
-
Disorders of copper transport
-
(eds Beaudet, A.L., Sly, W.S. & Valle, D.) (McGraw-Hill, New York,.)
-
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).
-
(1989)
Metabolic basis of inherited disease
, pp. 1411-1431
-
-
Danks, D.M.1
-
9
-
-
0027267143
-
DNA markers for the diagnosis of Wilson disease
-
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).
-
(1993)
J. Hepatol.
, vol.17
, pp. 269-276
-
-
Houwen, R.H.J.1
Thomas, G.R.2
Roberts, E.A.3
Cox, D.W.4
-
10
-
-
0025952952
-
Predictive testing for Wilson's disease using tightly linked and flanking DNA markers
-
Farrer, L.A. et al. Predictive testing for Wilson's disease using tightly linked and flanking DNA markers. Neurology 41, 992-999 (1991).
-
(1991)
Neurology
, vol.41
, pp. 992-999
-
-
Farrer, L.A.1
-
11
-
-
0015431015
-
A genetic study of Wilson's disease: Evidence for heterogeneity
-
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).
-
(1972)
Am. J. hum. Genet
, vol.24
, pp. 646-666
-
-
Cox, D.W.1
Fraser, F.C.2
Sass-Kortsak, A.3
-
12
-
-
0028011983
-
Haplotype studies in Wilson disease
-
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).
-
(1994)
Am. J. hum. Genet
, vol.54
, pp. 71-78
-
-
Thomas, G.R.1
Bull, P.C.2
Roberts, E.A.3
Walshe, J.M.4
Cox, D.W.5
-
14
-
-
0028001088
-
The LEC rat has a deletion in the copper transporting ATPase gene homologous to the Wilson disease gene
-
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).
-
(1994)
Nature Genet.
, vol.7
, pp. 541-545
-
-
Wu, J.1
Forbes, J.R.2
Shiene Chen, H.3
Cox, D.W.4
-
15
-
-
0028040512
-
Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: Genomic organization, alternative splicing, and structure/function predictions
-
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).
-
(1994)
Hum. molec. Genet.
, vol.3
, pp. 1647-1656
-
-
Petrukhin, K.E.1
Lutsenko, S.2
Chernov, I.3
Ross, B.M.4
Kaplan, J.H.5
Gilliam, T.C.6
-
17
-
-
0028017998
-
Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus
-
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).
-
(1994)
Nature Genet.
, vol.8
, pp. 195-202
-
-
Kaler, S.G.1
-
18
-
-
0027939458
-
Diverse mutations in patients with Menkes disease often lead to exon skipping
-
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).
-
(1994)
Am. J. hum. Genet.
, vol.55
, pp. 883-889
-
-
Das, S.1
Levinson, B.2
Whitney, S.3
Vulpe, C.4
Packman, S.5
Gitschier, J.6
-
19
-
-
0028228362
-
Application of inverse PCR to isolation of end probes from cosmids
-
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).
-
(1994)
Nucl. Acids Res
, vol.22
, pp. 1766-1767
-
-
Byth, B.C.1
Thomas, G.R.2
Hofland, N.3
Cox, D.W.4
-
20
-
-
0027304530
-
Allelic association and linkage studies in Wilson disease
-
Thomas, G.R. et al. Allelic association and linkage studies in Wilson disease. Hum. molec. Genet. 2, 1401-1405 (1993).
-
(1993)
Hum. molec. Genet.
, vol.2
, pp. 1401-1405
-
-
Thomas, G.R.1
-
21
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
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).
-
(1988)
Nucl. Acids Res.
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
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