-
1
-
-
0027364961
-
The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene
-
Tanzi R.E., Petrukhin K., Chernov I., Pellequer J.L., Wasco W., Ross B., et al. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet 5 (1993) 344-350
-
(1993)
Nat Genet
, vol.5
, pp. 344-350
-
-
Tanzi, R.E.1
Petrukhin, K.2
Chernov, I.3
Pellequer, J.L.4
Wasco, W.5
Ross, B.6
-
2
-
-
16944366995
-
Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses
-
Shah A.B., Chernov I., Zhang H.T., Ross B.M., Das K., Lutsenko S., et al. Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses. Am J Hum Genet 61 (1997) 317-328
-
(1997)
Am J Hum Genet
, vol.61
, pp. 317-328
-
-
Shah, A.B.1
Chernov, I.2
Zhang, H.T.3
Ross, B.M.4
Das, K.5
Lutsenko, S.6
-
3
-
-
7244220246
-
The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson's disease: results of a meta-analysis
-
Stapelbroek J.M., Bollen C.W., van Amstel J.K., van Erpecum K.J., van Hattum J., van den Berg L.H., et al. The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson's disease: results of a meta-analysis. J Hepatol 41 (2004) 758-763
-
(2004)
J Hepatol
, vol.41
, pp. 758-763
-
-
Stapelbroek, J.M.1
Bollen, C.W.2
van Amstel, J.K.3
van Erpecum, K.J.4
van Hattum, J.5
van den Berg, L.H.6
-
4
-
-
2342620218
-
Wilson's disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients
-
Deguti M.M., Genschel J., Cançado E.L., Barbosa E.R., Bochow B., Mucenic M., et al. Wilson's disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients. Hum Mutat 23 (2004) 398-406
-
(2004)
Hum Mutat
, vol.23
, pp. 398-406
-
-
Deguti, M.M.1
Genschel, J.2
Cançado, E.L.3
Barbosa, E.R.4
Bochow, B.5
Mucenic, M.6
-
5
-
-
33846442537
-
Diagnosis in Wilson's disease
-
Scheinberg I.H., and Sternlieb I. (Eds), Saunders, Philadelphia
-
Scheinberg I.H., and Sternlieb I. Diagnosis in Wilson's disease. In: Scheinberg I.H., and Sternlieb I. (Eds). Wilson's disease (1984), Saunders, Philadelphia 114-125
-
(1984)
Wilson's disease
, pp. 114-125
-
-
Scheinberg, I.H.1
Sternlieb, I.2
-
6
-
-
33846432340
-
Neurological manifestations in Wilson's disease: report of 119 cases
-
Machado A., Chien H.F., Deguti M.M., Cançado E., Azevedo R.S., Scaff M., et al. Neurological manifestations in Wilson's disease: report of 119 cases. Mov Disord 21 (2006) 2192-2196
-
(2006)
Mov Disord
, vol.21
, pp. 2192-2196
-
-
Machado, A.1
Chien, H.F.2
Deguti, M.M.3
Cançado, E.4
Azevedo, R.S.5
Scaff, M.6
-
7
-
-
0026230139
-
A fast method for high-quality genomic DNA extraction from whole human blood
-
Gustincich S., Manfioletti G., Del Sal G., Schneider C., and Carninci P. A fast method for high-quality genomic DNA extraction from whole human blood. Biotechniques 11 (1991) 298-300
-
(1991)
Biotechniques
, vol.11
, pp. 298-300
-
-
Gustincich, S.1
Manfioletti, G.2
Del Sal, G.3
Schneider, C.4
Carninci, P.5
-
8
-
-
0030298046
-
Efficient detection of mutations in Wilson disease by manifold sequencing
-
Waldenström E., Lagerkvist A., Dahlman T., Westermark K., and Landegren U. Efficient detection of mutations in Wilson disease by manifold sequencing. Genomics 37 (1996) 303-309
-
(1996)
Genomics
, vol.37
, pp. 303-309
-
-
Waldenström, E.1
Lagerkvist, A.2
Dahlman, T.3
Westermark, K.4
Landegren, U.5
-
9
-
-
0035171548
-
High prevalence of the H1069Q mutation in East German patients with Wilson's disease: rapid detection of mutations by limited sequencing and phenotype-genotype analysis
-
Caca K., Ferenci P., Kuhn H.J., Polli C., Willgerodt H., Kunath B., et al. High prevalence of the H1069Q mutation in East German patients with Wilson's disease: rapid detection of mutations by limited sequencing and phenotype-genotype analysis. J Hepatol 35 (2001) 575-581
-
(2001)
J Hepatol
, vol.35
, pp. 575-581
-
-
Caca, K.1
Ferenci, P.2
Kuhn, H.J.3
Polli, C.4
Willgerodt, H.5
Kunath, B.6
-
10
-
-
26244434931
-
Mutation analysis of the ATP7B gene and genotype-phenotype correlations in 227 patients with Wilson's disease
-
Vrabelova S., Letocha O., Borsky M., and Kozak L. Mutation analysis of the ATP7B gene and genotype-phenotype correlations in 227 patients with Wilson's disease. Mol Genet Metabol 86 (2005) 277-285
-
(2005)
Mol Genet Metabol
, vol.86
, pp. 277-285
-
-
Vrabelova, S.1
Letocha, O.2
Borsky, M.3
Kozak, L.4
-
11
-
-
0028869945
-
The Wilson's disease gene: spectrum of mutations and their consequences
-
Thomas G.R., Forbes J.R., Roberts E.A., Walshe J.M., and Cox D.W. The Wilson's disease gene: spectrum of mutations and their consequences. Nat Genet 9 (1995) 210-217
-
(1995)
Nat Genet
, vol.9
, pp. 210-217
-
-
Thomas, G.R.1
Forbes, J.R.2
Roberts, E.A.3
Walshe, J.M.4
Cox, D.W.5
-
12
-
-
33645130155
-
Prion protein gene codon 129 modulates clinical course of neurological Wilson's disease
-
Grubenbecher S., Stuve O., Hefter H., and Korth C. Prion protein gene codon 129 modulates clinical course of neurological Wilson's disease. Neuroreport 17 (2006) 549-552
-
(2006)
Neuroreport
, vol.17
, pp. 549-552
-
-
Grubenbecher, S.1
Stuve, O.2
Hefter, H.3
Korth, C.4
|