메뉴 건너뛰기




Volumn 13, Issue 38, 2007, Pages 5147-5150

Wilson disease: Identification of two novel mutations and clinical correlation in Eastern Chinese patients

Author keywords

ATP7B gene; Mutations; Polymorphisms; Wilson disease

Indexed keywords

ARGININE; ASPARTIC ACID; GLUTAMIC ACID; GLYCINE; LEUCINE; WILSON DISEASE PROTEIN;

EID: 34948861266     PISSN: 10079327     EISSN: None     Source Type: Journal    
DOI: 10.3748/wjg.v13.i38.5147     Document Type: Article
Times cited : (26)

References (31)
  • 3
    • 33646827879 scopus 로고    scopus 로고
    • Molecular pathogenesis of Wilson disease: Haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients
    • Gupta A, Aikath D, Neogi R, Datta S, Basu K, Maity B, Trivedi R, Ray J, Das SK, Gangopadhyay PK, Ray K. Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients. Hum Genet 2005; 118: 49-57
    • (2005) Hum Genet , vol.118 , pp. 49-57
    • Gupta, A.1    Aikath, D.2    Neogi, R.3    Datta, S.4    Basu, K.5    Maity, B.6    Trivedi, R.7    Ray, J.8    Das, S.K.9    Gangopadhyay, P.K.10    Ray, K.11
  • 5
    • 0030012456 scopus 로고    scopus 로고
    • 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 Genet 1996; 33: 521-523
    • (1996) J Med Genet , 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
  • 7
    • 0038326583 scopus 로고    scopus 로고
    • Molecular diagnosis and prophylactic therapy for presymptomatic Chinese patients with Wilson disease
    • Wu ZY, Lin MT, Murong SX, Wang N. Molecular diagnosis and prophylactic therapy for presymptomatic Chinese patients with Wilson disease. Arch Neurol 2003; 60: 737-741
    • (2003) Arch Neurol , vol.60 , pp. 737-741
    • Wu, Z.Y.1    Lin, M.T.2    Murong, S.X.3    Wang, N.4
  • 8
    • 0027452091 scopus 로고
    • The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene
    • Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet 1993; 5: 327-537
    • (1993) Nat Genet , vol.5 , pp. 327-537
    • Bull, P.C.1    Thomas, G.R.2    Rommens, J.M.3    Forbes, J.R.4    Cox, D.W.5
  • 10
    • 0345059398 scopus 로고    scopus 로고
    • Wilson disease
    • Gitlin JD. Wilson disease. Gastroenterology 2003; 125: 1868-1877
    • (2003) Gastroenterology , vol.125 , pp. 1868-1877
    • Gitlin, J.D.1
  • 14
    • 0035139204 scopus 로고    scopus 로고
    • The Wilson's disease gene and phenotypic diversity
    • Riordan SM, Williams R. The Wilson's disease gene and phenotypic diversity. J Hepatol 2001; 34: 165-171
    • (2001) J Hepatol , vol.34 , pp. 165-171
    • Riordan, S.M.1    Williams, R.2
  • 15
    • 33747029284 scopus 로고    scopus 로고
    • Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: Impact on genetic testing
    • Ferenci P. Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing. Hum Genet 2006; 120: 151-159
    • (2006) Hum Genet , vol.120 , pp. 151-159
    • Ferenci, P.1
  • 16
    • 26244434931 scopus 로고    scopus 로고
    • Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease
    • Vrabelova S, Letocha O, Borsky M, Kozak L. Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. Mol Genet Metab 2005; 86: 277-285
    • (2005) Mol Genet Metab , vol.86 , pp. 277-285
    • Vrabelova, S.1    Letocha, O.2    Borsky, M.3    Kozak, L.4
  • 18
    • 0345480774 scopus 로고    scopus 로고
    • 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
  • 19
    • 0034767782 scopus 로고    scopus 로고
    • 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 W. 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.4
  • 21
    • 0038014098 scopus 로고    scopus 로고
    • 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
  • 22
    • 0034100043 scopus 로고    scopus 로고
    • 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
  • 24
    • 0035208812 scopus 로고    scopus 로고
    • Estimate of the frequency of Wilson's disease in the US Caucasian population: A mutation analysis approach
    • Olivarez L, Caggana M, Pass KA, Ferguson P, Brewer GJ. Estimate of the frequency of Wilson's disease in the US Caucasian population: a mutation analysis approach. Ann Hum Genet 2001; 65: 459-463
    • (2001) Ann Hum Genet , vol.65 , pp. 459-463
    • Olivarez, L.1    Caggana, M.2    Pass, K.A.3    Ferguson, P.4    Brewer, G.J.5
  • 25
    • 33847137369 scopus 로고    scopus 로고
    • Late neurological presentations of Wilson disease patients in French population and identification of 8 novel mutations in the ATP7B gene
    • Chappuis P, Callebert J, Quignon V, Woimant F, Laplanche JL. Late neurological presentations of Wilson disease patients in French population and identification of 8 novel mutations in the ATP7B gene. J Trace Elem Med Biol 2007; 21: 3742
    • (2007) J Trace Elem Med Biol , vol.21 , pp. 3742
    • Chappuis, P.1    Callebert, J.2    Quignon, V.3    Woimant, F.4    Laplanche, J.L.5
  • 28
    • 0035171548 scopus 로고    scopus 로고
    • 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, Kuhn HJ, Polli C, Willgerodt H, Kunath B, Hermann W, Mossner J, Berr F. 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: 575-581
    • (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    Hermann, W.7    Mossner, J.8    Berr, F.9
  • 31
    • 33947159316 scopus 로고    scopus 로고
    • Clinical and molecular characterization of Wilson disease in Spanish patients
    • Brage A, Tome S, Garcia A, Carracedo A, Salas A. Clinical and molecular characterization of Wilson disease in Spanish patients. Hepatol Res 2007; 37: 18-26
    • (2007) Hepatol Res , vol.37 , pp. 18-26
    • Brage, A.1    Tome, S.2    Garcia, A.3    Carracedo, A.4    Salas, A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.