-
1
-
-
0027255087
-
Isolation of new probes in the region of the Wilson disease locus, 13q14.2-q14.3
-
Bull PC, Barwell JA, Hannah HT, Pautler SE, Higgins MJ, Lal M, Cox DW. Isolation of new probes in the region of the Wilson disease locus, 13q14.2-q14.3. Cytogenet Cell Genet 1993; 64: 12-17
-
(1993)
Cytogenet. Cell Genet.
, vol.64
, pp. 12-17
-
-
Bull, P.C.1
Barwell, J.A.2
Hannah, H.T.3
Pautler, S.E.4
Higgins, M.J.5
Lal, M.6
Cox, D.W.7
-
2
-
-
0028869945
-
The Wilson disease gene: Spectrum of mutations and their consequences
-
Thomas GR, Forbes JR, Roberts EA, Walshe JM, Cox DW. The Wilson disease gene: spectrum of mutations and their consequences. Nat Genet 1995; 9: 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
-
3
-
-
16944366995
-
Identification and Analysis of Mutations in the Wilson Disease Gene (ATP7B): Population Frequencies, Genotype-phenotype Correlation, and Functional Analyses
-
Shah AB, Chernov I, Zhang HT, Ross BM, Das K, Lutsenko S, Parano E, Pavone L, Evgrafov O, Ivanova-Smolenskaya IA, Annerén G, Westermark K, Urrutia FH, Penchaszadeh GK, Sternlieb I, Scheinberg IH, Gilliam TC, Petrukhin K. Identification and Analysis of Mutations in the Wilson Disease Gene (ATP7B): Population Frequencies, Genotype-phenotype Correlation, and Functional Analyses. Am J Hum Genet 1997; 61: 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
Parano, E.7
Pavone, L.8
Evgrafov, O.9
Ivanova-Smolenskaya, I.A.10
Annerén, G.11
Westermark, K.12
Urrutia, F.H.13
Penchaszadeh, G.K.14
Sternlieb, I.15
Scheinberg, I.H.16
Gilliam, T.C.17
Petrukhin, K.18
-
4
-
-
25544440644
-
Polymorphism analysis of ATP7B related microsatellite DNA haplotype in Wilson disease
-
Liu XQ, Zhang YF, Gu XF, Bao KR. Polymorphism analysis of ATP7B related microsatellite DNA haplotype in Wilson disease. Lab Medicine 2002; (Suppl): S50-51
-
(2002)
Lab. Medicine
, Issue.SUPPL.
-
-
Liu, X.Q.1
Zhang, Y.F.2
Gu, X.F.3
Bao, K.R.4
-
5
-
-
0031982247
-
Wilson disease in 1998: Genetic, diagnostic and therapeutic aspects
-
Gollan JL, Gollan TJ. Wilson disease in 1998: genetic, diagnostic and therapeutic aspects. J Hepatol 1998; 28: 28-36
-
(1998)
J. Hepatol.
, vol.28
, pp. 28-36
-
-
Gollan, J.L.1
Gollan, T.J.2
-
6
-
-
0030665919
-
Very high frequency of the His1069Gln mutation in Polish Wilson disease patients
-
Czlonkowska A, Rodo M, Gajda J, Ploos van Amstel HK, Juyn J, Houwen RHJ. Very high frequency of the His1069Gln mutation in Polish Wilson disease patients. J Neurol 1997; 244: 591-599
-
(1997)
J. Neurol.
, vol.244
, pp. 591-599
-
-
Czlonkowska, A.1
Rodo, M.2
Gajda, J.3
Ploos van Amstel, H.K.4
Juyn, J.5
Houwen, R.H.J.6
-
7
-
-
0033033261
-
The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease
-
Ivanova-Smolenskaya TA, Ovchinnikov IV, Karabanov AV, Deineko NL, Poleshchuk VV, Markova ED, Illarioshkin SN. The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease. J Med Genet 1999; 36: 174
-
(1999)
J. Med. Genet.
, vol.36
, pp. 174
-
-
Ivanova-Smolenskaya, T.A.1
Ovchinnikov, I.V.2
Karabanov, A.V.3
Deineko, N.L.4
Poleshchuk, V.V.5
Markova, E.D.6
Illarioshkin, S.N.7
-
8
-
-
0034438722
-
Frequency of His1069Gln and Gly1267Lys mutations in Polish Wilson's Disease population
-
Tarnacka B, Gromadzka G, Rodo M, Mierzejewski P, Czloonkowska A. Frequency of His1069Gln and Gly1267Lys mutations in Polish Wilson's Disease population. Eur J Neurol 2000; 7: 495-498
-
(2000)
Eur. J. Neurol.
, vol.7
, pp. 495-498
-
-
Tarnacka, B.1
Gromadzka, G.2
Rodo, M.3
Mierzejewski, P.4
Czloonkowska, A.5
-
9
-
-
0032710179
-
Mutation analysis in patients of Mediterranean descent with Wilson disease: Identification of 19 novel mutations
-
Loudianos G, Dessi V, Lovicu M, Angius A, Altuntas B, Giacchino R, Marazzi M, Marcellini M, Sartorelli MR, Sturniolo GC, Kocak N, Yuce A, Akar N, Pirastu M, Cao A. Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations. J Med Genet 1999; 36: 833-836
-
(1999)
J. Med. Genet.
, vol.36
, pp. 833-836
-
-
Loudianos, G.1
Dessi, V.2
Lovicu, M.3
Angius, A.4
Altuntas, B.5
Giacchino, R.6
Marazzi, M.7
Marcellini, M.8
Sartorelli, M.R.9
Sturniolo, G.C.10
Kocak, N.11
Yuce, A.12
Akar, N.13
Pirastu, M.14
Cao, A.15
-
10
-
-
0035047834
-
Genotype-phenotype interactions in Wilson's disease: Insight from an Icelandic mutation
-
Palsson R, Jonasson JG, Kristjansson M, Bodvarsson A, Goldin RD, Cox DW, Olafsson S. Genotype-phenotype interactions in Wilson's disease: insight from an Icelandic mutation. Eur J Gastroenterol Hepatol 2001; 13: 433-436
-
(2001)
Eur. J. Gastroenterol. Hepatol.
, vol.13
, pp. 433-436
-
-
Palsson, R.1
Jonasson, J.G.2
Kristjansson, M.3
Bodvarsson, A.4
Goldin, R.D.5
Cox, D.W.6
Olafsson, S.7
-
11
-
-
0035171548
-
High prevalence of the H1069Q mutation in East German patients with Wilson disease: Rapid detection of mutations by limited sequencing and phenotypegenotype analysis
-
Caca K, Ferenci P, Kühn HJ, Polli C, Willgerodt H, Kunath B, Hermann W, Mössner J, Berr F. High prevalence of the H1069Q mutation in East German patients with Wilson disease: rapid detection of mutations by limited sequencing and phenotypegenotype analysis. J Hepatol 2001; 35: 575-581
-
(2001)
J. Hepatol.
, vol.35
, pp. 575-581
-
-
Caca, K.1
Ferenci, P.2
Kühn, H.J.3
Polli, C.4
Willgerodt, H.5
Kunath, B.6
Hermann, W.7
Mössner, J.8
Berr, F.9
-
12
-
-
0037082977
-
Common mutations of ATP7B in Wilson disease patients from Hungary
-
Firneisz G, Lakatos PL, Szalay F, Polli C, Glant TT, Ferenci P. Common mutations of ATP7B in Wilson disease patients from Hungary. Am J Med Genet 2002; 108: 23-28
-
(2002)
Am. J. Med. Genet.
, vol.108
, pp. 23-28
-
-
Firneisz, G.1
Lakatos, P.L.2
Szalay, F.3
Polli, C.4
Glant, T.T.5
Ferenci, P.6
-
13
-
-
0038014098
-
Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease
-
Yoo HW. Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease. Genet Med 2002; 4: 43S-48S
-
(2002)
Genet. Med.
, vol.4
-
-
Yoo, H.W.1
-
14
-
-
0345480774
-
Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease
-
Kim EK, Yoo OJ, Song KY, Yoo HW, Choi SY, Cho SW, Hahn SH. Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease. Hum Mutat 1998; 11: 275-278
-
(1998)
Hum. Mutat.
, vol.11
, pp. 275-278
-
-
Kim, E.K.1
Yoo, O.J.2
Song, K.Y.3
Yoo, H.W.4
Choi, S.Y.5
Cho, S.W.6
Hahn, S.H.7
-
15
-
-
0034071017
-
Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease
-
Okada T, Shiono Y, Hayashi H, Satoh H, Sawada T, Suzuki A, Takeda Y, Yano M, Michitaka K, Onji M, Mabuchi H. Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease. Hum Mutat 2000; 15: 454-462
-
(2000)
Hum. Mutat.
, vol.15
, pp. 454-462
-
-
Okada, T.1
Shiono, Y.2
Hayashi, H.3
Satoh, H.4
Sawada, T.5
Suzuki, A.6
Takeda, Y.7
Yano, M.8
Michitaka, K.9
Onji, M.10
Mabuchi, H.11
-
16
-
-
0032793169
-
Molecular analysis and diagnosis in Japanese patient with Wilson's disease
-
Shimizu N, Nakazono H, Takeshita Y, Ikeda C, Fujii H, Watanabe A, Yamaguchi Y, Hemmi H, Shimatake H, Aoki T. Molecular analysis and diagnosis in Japanese patient with Wilson's disease. Pediatr Int 1999; 41: 409-413
-
(1999)
Pediatr. Int.
, vol.41
, pp. 409-413
-
-
Shimizu, N.1
Nakazono, H.2
Takeshita, Y.3
Ikeda, C.4
Fujii, H.5
Watanabe, A.6
Yamaguchi, Y.7
Hemmi, H.8
Shimatake, H.9
Aoki, T.10
-
17
-
-
0034100043
-
Novel mutations of the ATP7B gene in Japanese patients with Wilson disease
-
Kusuda Y, Hamaguchi K, Mori T, Shin R, Seike M, Sakata T. Novel mutations of the ATP7B gene in Japanese patients with Wilson disease. J Hum Genet 2000; 45: 86-91
-
(2000)
J. Hum. Genet.
, vol.45
, pp. 86-91
-
-
Kusuda, Y.1
Hamaguchi, K.2
Mori, T.3
Shin, R.4
Seike, M.5
Sakata, T.6
-
18
-
-
0036032162
-
Two families with Wilson disease in which siblings showed different phenotypes
-
Takeshita Y, Shimizu N, Yamaguchi Y, Nakazono H, Saitou M, Fujikawa Y, Aoki T. Two families with Wilson disease in which siblings showed different phenotypes. J Hum Genet 2002; 47: 543-547
-
(2002)
J. Hum. Genet.
, vol.47
, pp. 543-547
-
-
Takeshita, Y.1
Shimizu, N.2
Yamaguchi, Y.3
Nakazono, H.4
Saitou, M.5
Fujikawa, Y.6
Aoki, T.7
-
19
-
-
0030971764
-
Haplotype and mutation analysis in Japanese patients with Wilson disease
-
Nanji MS, Nguyen VTT, Kawasoe JH, Inui K Endo F, Nakajima T, Anezaki T, Cox DW. Haplotype and mutation analysis in Japanese patients with Wilson disease. Am J Hum Genet 1997; 60: 1423-1429
-
(1997)
Am. J. Hum. Genet.
, vol.60
, pp. 1423-1429
-
-
Nanji, M.S.1
Nguyen, V.T.T.2
Kawasoe, J.H.3
Inui, K.4
Endo, F.5
Nakajima, T.6
Anezaki, T.7
Cox, D.W.8
-
20
-
-
0033776322
-
Molecular analysis of Wilson disease in Taiwan: Identification of one novel mutation and evidence of haplotype-mutation association
-
Lee CC, Wu JY, Tsai FJ, Kodama H, Abe T, Yang CF, Tsai CH. Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association. J Hum Genet 2000; 45: 275-279
-
(2000)
J. Hum. Genet.
, vol.45
, pp. 275-279
-
-
Lee, C.C.1
Wu, J.Y.2
Tsai, F.J.3
Kodama, H.4
Abe, T.5
Yang, C.F.6
Tsai, C.H.7
-
21
-
-
0030012456
-
High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease
-
Chuang LM, Wu HP, Jang MH, Wang TR, Sue WC, Lin BJ, Cox DW, Tai TY. High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease. J Med Gene 1996; 33: 521-523
-
(1996)
J. Med. Gene
, vol.33
, pp. 521-523
-
-
Chuang, L.M.1
Wu, H.P.2
Jang, M.H.3
Wang, T.R.4
Sue, W.C.5
Lin, B.J.6
Cox, D.W.7
Tai, T.Y.8
-
22
-
-
0040516312
-
Identification of a mutation hotspot in exon 8 of Wilson disease gene by cycle sequencing
-
Fan Y, Yu L, Jiang Y, Xu Y, Yang R, Han Y, Cui Y, Ren M, Zhao S. Identification of a mutation hotspot in exon 8 of Wilson disease gene by cycle sequencing. Chin Med J 2000; 113: 172-174
-
(2000)
Chin. Med. J.
, vol.113
, pp. 172-174
-
-
Fan, Y.1
Yu, L.2
Jiang, Y.3
Xu, Y.4
Yang, R.5
Han, Y.6
Cui, Y.7
Ren, M.8
Zhao, S.9
-
23
-
-
0031129721
-
Identification of a novel mutation in Wilson disease gene
-
Yang RM, Fan YX, Yu L, Cai YL, Shi SL, Wang XP, Han YZ, Ren MS, Zhao SY. Identification of a novel mutation in Wilson disease gene. Zhonghua Yixue Zazhi 1997; 77: 344-347
-
(1997)
Zhonghua Yixue Zazhi
, vol.77
, pp. 344-347
-
-
Yang, R.M.1
Fan, Y.X.2
Yu, L.3
Cai, Y.L.4
Shi, S.L.5
Wang, X.P.6
Han, Y.Z.7
Ren, M.S.8
Zhao, S.Y.9
-
24
-
-
0034974763
-
Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients with Wilson disease
-
Wu ZY, Wang N, Lin MT, Fang L, Murong SX, Yu L. Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients with Wilson disease. Arch Neurol 2001; 58: 971-976
-
(2001)
Arch. Neurol.
, vol.58
, pp. 971-976
-
-
Wu, Z.Y.1
Wang, N.2
Lin, M.T.3
Fang, L.4
Murong, S.X.5
Yu, L.6
-
25
-
-
1542382884
-
Hot point mutations of Wilson disease gene in Chinese with DNA sequencing
-
Wang Y, Wu ZY, Murong ZX, Lin MT, Fang L. Hot point mutations of Wilson disease gene in Chinese with DNA sequencing. Zhonghua Shenjingke Zazhi 1998; 31: 20-24
-
(1998)
Zhonghua Shenjingke Zazhi
, vol.31
, pp. 20-24
-
-
Wang, Y.1
Wu, Z.Y.2
Murong, Z.X.3
Lin, M.T.4
Fang, L.5
-
26
-
-
0034767782
-
Identification of a high frequency of mutation at exon 8 of the ATP7B gene in a Chinese population with Wilson disease by fluorescent PCR
-
Xu P, Liang X, Jankovic J, Le WD. Identification of a high frequency of mutation at exon 8 of the ATP7B gene in a Chinese population with Wilson disease by fluorescent PCR. Arch Neurol 2001; 58: 1879-1882
-
(2001)
Arch. Neurol.
, vol.58
, pp. 1879-1882
-
-
Xu, P.1
Liang, X.2
Jankovic, J.3
Le, W.D.4
-
27
-
-
1542382887
-
A study on the relationship between Arg778Leu mutation of ATP7B gene and clinical phenotype in Wilson disease
-
Liu XQ, Zhang JM, Gu XF, Wu J, Zhang YF, Xue HP, Xu XP, Bao KR, Chen RG. A study on the relationship between Arg778Leu mutation of ATP7B gene and clinical phenotype in Wilson disease. Zhonghua Erke Zazhi 1999; 37: 359-361
-
(1999)
Zhonghua Erke Zazhi
, vol.37
, pp. 359-361
-
-
Liu, X.Q.1
Zhang, J.M.2
Gu, X.F.3
Wu, J.4
Zhang, Y.F.5
Xue, H.P.6
Xu, X.P.7
Bao, K.R.8
Chen, R.G.9
-
28
-
-
1542382885
-
Clinical application of D13S301 maker in the diagnosis of children with Wilson disease
-
Liu XQ, Zhang YF, Liu TT, Gu XF, Bao KR. Clinical application of D13S301 maker in the diagnosis of children with Wilson disease. Linchuang Erke Zazhi 2002; 20: 614-616
-
(2002)
Linchuang Erke Zazhi
, vol.20
, pp. 614-616
-
-
Liu, X.Q.1
Zhang, Y.F.2
Liu, T.T.3
Gu, X.F.4
Bao, K.R.5
-
29
-
-
0033993020
-
Identification and analysis of mutation of the Wilson disease gene in Chinese population
-
Wu Z, Wang N, Murong S, Lin M. Identification and analysis of mutation of the Wilson disease gene in Chinese population. Chin Med J 2000; 113: 40-43
-
(2000)
Chin. Med. J.
, vol.113
, pp. 40-43
-
-
Wu, Z.1
Wang, N.2
Murong, S.3
Lin, M.4
-
30
-
-
0031731014
-
Mutation analysis of Wilson disease in Taiwan and description of six new mutations
-
Tsai CH, Tsai FJ, Wu JY, Chang JG, Lee CC, Lin SP, Yang CF, Jong YL, Lo MC. Mutation analysis of Wilson disease in Taiwan and description of six new mutations. Hum Mutat 1998; 12: 370-376
-
(1998)
Hum. Mutat.
, vol.12
, pp. 370-376
-
-
Tsai, C.H.1
Tsai, F.J.2
Wu, J.Y.3
Chang, J.G.4
Lee, C.C.5
Lin, S.P.6
Yang, C.F.7
Jong, Y.L.8
Lo, M.C.9
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