-
1
-
-
0027452091
-
The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes disease gene
-
Bull P, Thomas G R, Forbes J, Rommens J M, Cox D W. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes disease gene. Nature Genet 1993; 5: 327-37.
-
(1993)
Nature Genet.
, vol.5
, pp. 327-337
-
-
Bull, P.1
Thomas, G.R.2
Forbes, J.3
Rommens, J.M.4
Cox, D.W.5
-
2
-
-
0027364961
-
The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene
-
Tanzi R E, Petrukhin K, Chernov I, et al. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet 1993; 5: 344-50.
-
(1993)
Nat. Genet.
, vol.5
, pp. 344-350
-
-
Tanzi, R.E.1
Petrukhin, K.2
Chernov, I.3
-
3
-
-
0142106788
-
-
Wilson disease mutation database. Available at the web site: www.medgen.med.ualberta.ca/database.html. Curators: Kenney S, Cox DW
-
Wilson disease mutation database. Available at the web site: www.medgen.med.ualberta.ca/database.html. Curators: Kenney S, Cox DW.
-
-
-
-
4
-
-
0028869945
-
The Wilson disease gene: Spectrum of mutations and their consequences
-
Thomas G R, Forbes J R, Roberts E A, Walshe J M, Cox D W. The Wilson disease gene: spectrum of mutations and their consequences. Nature Genet 1995; 9: 210-7.
-
(1995)
Nature 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
-
5
-
-
0028040512
-
Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase. Genomic organization, alternative splicing, and structure/function predictions
-
Petrukhin K, 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 Mol Genet 1994; 3: 1647-56.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 1647-1656
-
-
Petrukhin, K.1
Lutsenko, S.2
Chernov, I.3
Ross, B.M.4
Kaplan, J.H.5
Gilliam, T.C.6
-
6
-
-
0030871471
-
Detection of the His 1069Gln mutation in Wilson disease by rapid polymerase chain reaction
-
Maier-Dobersberger T, Ferenci P, Polli C, et al. Detection of the His 1069Gln mutation in Wilson disease by rapid polymerase chain reaction. Ann Intern Med 1997; 127: 21-6.
-
(1997)
Ann. Intern. Med.
, vol.127
, pp. 21-26
-
-
Maier-Dobersberger, T.1
Ferenci, P.2
Polli, C.3
-
7
-
-
0032793169
-
Molecular analysis and diagnosis in Japanese patients with Wilson's disease
-
Shimizu N, Nakazono H. Takeshita Y, et al. Molecular analysis and diagnosis in Japanese patients with Wilson's disease. Pediatr Int 1999; 41: 409-13.
-
(1999)
Pediatr. Int.
, vol.41
, pp. 409-413
-
-
Shimizu, N.1
Nakazono, H.2
Takeshita, Y.3
-
9
-
-
17544388130
-
Wilson's disease in patients presenting with liver disease: A diagnostic challenge
-
Steindl P, Ferenci P, Dienes H P, et al. Wilson's disease in patients presenting with liver disease: a diagnostic challenge. Gastroenterology 1997; 113: 212-8.
-
(1997)
Gastroenterology
, vol.113
, pp. 212-218
-
-
Steindl, P.1
Ferenci, P.2
Dienes, H.P.3
-
10
-
-
0026535178
-
Value of urinary copper excretion after penicillamine challenge in the diagnosis of Wilson's disease
-
Da Costa C M, Baldwin D, Portmann B, Lolin Y, Mowat A P, Mieli-Vergani G. Value of urinary copper excretion after penicillamine challenge in the diagnosis of Wilson's disease. Hepatology 1992; 15: 609-15.
-
(1992)
Hepatology
, vol.15
, pp. 609-615
-
-
Da Costa, C.M.1
Baldwin, D.2
Portmann, B.3
Lolin, Y.4
Mowat, A.P.5
Mieli-Vergani, G.6
-
12
-
-
0026683117
-
Striking variability of hepatic copper levels in fulminant hepatic failure
-
McDonald J A, Snitch P, Painter D, Hensle W, Gallagher N D, McCaughan G W. Striking variability of hepatic copper levels in fulminant hepatic failure. J Gastroenterol Hepatol 1992; 7: 396-8.
-
(1992)
J. Gastroenterol. Hepatol.
, vol.7
, pp. 396-398
-
-
McDonald, J.A.1
Snitch, P.2
Painter, D.3
Hensle, W.4
Gallagher, N.D.5
McCaughan, G.W.6
-
13
-
-
0142043278
-
Diagnostic value of quantitative copper determination in liver biopsy samples in patients with Wilson disease
-
Ferenci P, Jessner W, Munda-Steindl P, Wrba F. Diagnostic value of quantitative copper determination in liver biopsy samples in patients with Wilson disease. Hepatology 2002; 36: 338A.
-
(2002)
Hepatology
, vol.36
-
-
Ferenci, P.1
Jessner, W.2
Munda-Steindl, P.3
Wrba, F.4
-
14
-
-
0035171548
-
High Prevalence of the H1069Q mutation in East German patients with Wilson Disease. Rapid detection of mutations by limited sequencing and phenotype-genotype analysis
-
Caca K. Ferenci P, Kühn H J, et al. High Prevalence of the H1069Q mutation in East German patients with Wilson Disease. Rapid detection of mutations by limited sequencing and phenotype-genotype analysis. J Hepatol 2001; 35: 575-81.
-
(2001)
J. Hepatol.
, vol.35
, pp. 575-581
-
-
Caca, K.1
Ferenci, P.2
Kühn, H.J.3
-
15
-
-
0142011447
-
Common mutations of ATP7B in Wilson disease patients from Hungary
-
(in press)
-
Firneisz G, Lakatos P L, Szalay F, Polli C, Glant T T, Ferenci P. Common mutations of ATP7B in Wilson disease patients from Hungary. Am J Human Genetics 2001, (in press).
-
(2001)
Am. J. Human Genetics
-
-
Firneisz, G.1
Lakatos, P.L.2
Szalay, F.3
Polli, C.4
Glant, T.T.5
Ferenci, P.6
-
16
-
-
0030873148
-
Plasma ceruloplasmin as screening test for Wilson's disease
-
Cauza E, Maier-Dobersberger Th, Ferenci P. Plasma ceruloplasmin as screening test for Wilson's disease. J Hepatol 1997; 27: 358-62.
-
(1997)
J. Hepatol.
, vol.27
, pp. 358-362
-
-
Cauza, E.1
Maier-Dobersberger, Th.2
Ferenci, P.3
-
17
-
-
0029799569
-
Molecular advances in Wilson disease
-
Cox D. Molecular advances in Wilson disease. In: Progress in Liver Disease, 1996; pp. 245-63.
-
(1996)
Progress in Liver Disease
, pp. 245-263
-
-
Cox, D.1
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