Wilson Disease Mutation Database

Database Reference List

  1. Tanzi RE, Petrukhin K, Chernov I, et al. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nature genetics; 1993:344-350.
  2. Figus A, Angius A, Loudianos G, et al. Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations. American journal of human genetics. 1995;57:1318-1324.
  3. Shimizu N, Kawase C, Nakazono H, et al. A novel RNA splicing mutation in Japanese patients with Wilson disease. Biochemical and biophysical research communications. 1995;217:16-20.
  4. Thomas GR, Forbes JR, Roberts EA, et al. The Wilson disease gene: spectrum of mutations and their consequences. Nature genetics. 1995;9:210-217.
  5. Thomas GR, Jensson O, Gudmundsson G, et al. Wilson disease in Iceland: a clinical and genetic study. American journal of human genetics. 1995;56:1140-1146.
  6. Chuang LM, Wu HP, Jang MH, et al. High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease. Journal of medical genetics. 1996;33:521-523.
  7. Loudianos G, Dessi V, Angius A, et al. Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients. Human genetics. 1996;98:640-642.
  8. Misrahi M, Hadchouel M, Spykerelle C, et al. Novel mutations in the Wilson disease gene in European patients. 5th International Meeting on Trace Elements in Medicine and Biology, February 4-7, 1996.
  9. Waldenstrom E, Lagerkvist A, Dahlman T, et al. Efficient detection of mutations in Wilson disease by manifold sequencing. Genomics. 1996;37:303-309.
  10. Fan Y, Yang R, Yu L, et al. Identification of a novel missense mutation in Wilson's disease gene. Chinese medical journal. 1997;110:887-890.
  11. Kemppainen R, Palatsi R, Kallioinen M, et al. A homozygous nonsense mutation and a combination of two mutations of the Wilson disease gene in patients with different lysyl oxidase activities in cultured fibroblasts. The Journal of investigative dermatology. 1997;108:35-39.
  12. Nanji MS, Nguyen VT, Kawasoe JH, et al. Haplotype and mutation analysis in Japanese patients with Wilson disease. American journal of human genetics. 1997;60:1423-1429.
  13. Orru S, Thomas G, Loizedda A, et al. 24 bp deletion and Ala1278 to Val mutation of the ATP7B gene in a Sardinian family with Wilson disease. Human mutation. 1997;10:84-85.
  14. Shah AB, Chernov I, Zhang HT, et al. Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses. American journal of human genetics. 1997;61:317-328.
  15. Duc HH, Hefter H, Stremmel W, et al. His1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype. Eur J Hum Genet. 1998;6:616-623.
  16. Kalinsky H, Funes A, Zeldin A, et al. Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups. Human mutation. 1998;11:145-151.
  17. Kim EK, Yoo OJ, Song KY, et al. Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease. Human mutation. 1998;11:275-278.
  18. Loudianos G, Dessi V, Lovicu M, et al. Further delineation of the molecular pathology of Wilson disease in the Mediterranean population. Human mutation. 1998;12:89-94.
  19. Yamaguchi A, Matsuura A, Arashima S, et al. Mutations of ATP7B gene in Wilson disease in Japan: identification of nine mutations and lack of clear founder effect in a Japanese population. Human mutation. 1998;Suppl 1:S320-322.
  20. Wildenauer D, personal communication.
  21. Thomas GR, et al. unpublished data.
  22. Cox DW, Prat L, Walshe JM, et al. Twenty-four novel mutations in Wilson disease patients of predominantly European ancestry. Human mutation. 2005;26:280.
  23. Curtis D, Durkie M, Balac P, et al. A study of Wilson disease mutations in Britain. Human mutation. 1999;14:304-311.
  24. Chen R, submitted February 4, 2000.
  25. Loudianos G, Dessi V, Lovicu M, et al. Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations. Journal of medical genetics. 1999;36:833-836.
  26. Tsai CH, Tsai FJ, Wu JY, et al. Mutation analysis of Wilson disease in Taiwan and description of six new mutations. Human mutation. 1998;12:370-376.
  27. Loudianos G, Dessi V, Lovicu M, et al. Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect. Human mutation. 1999;14:294-303.
  28. Loudianos G, Dessi V, Lovicu M, et al. Haplotype and mutation analysis in Greek patients with Wilson disease. Eur J Hum Genet. 1998;6:487-491.
  29. Lee CC, Wu JY, Tsai FJ, et al. Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association. Journal of human genetics. 2000;45:275-279.
  30. Okada T, Morise T, Takeda Y, et al. A new variant deletion of a copper-transporting P-type ATPase gene found in patients with Wilson's disease presenting with fulminant hepatic failure. Journal of gastroenterology. 2000;35:278-283.
  31. Loudianos G, Lovicu M, Solinas P, et al. Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations. Genetic testing. 2000;4:399-402.
  32. Majumdar R, Al Jumah M, Al Rajeh S, et al. A novel deletion mutation within the carboxyl terminus of the copper-transporting ATPase gene causes Wilson disease. Journal of the neurological sciences. 2000;179:140-143.
  33. Okada T, Shiono Y, Hayashi H, et al. Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease. Human mutation. 2000;15:454-462.
  34. Kusuda Y, Hamaguchi K, Mori T, et al. Novel mutations of the ATP7B gene in Japanese patients with Wilson disease. Journal of human genetics. 2000;45:86-91.
  35. Butler P, McIntyre N, Mistry PK. Molecular diagnosis of Wilson disease. Molecular genetics and metabolism. 2001;72:223-230.
  36. Genschel J, Sommer G, Haas R, et al. Three novel mutations, c314C>A, C778insC, and c1285+2T>A, in exon 2 of the Wilson disease gene. Human mutation. 2000;16:278.
  37. Haas R, Gutierrez-Rivero B, Knoche J, et al. Mutation analysis in patients with Wilson disease: identification of 4 novel mutations. Mutation in brief no. 250. Online. Human mutation. 1999;14:88.
  38. Shimizu N, Nakazono H, Takeshita Y, et al. Molecular analysis and diagnosis in Japanese patients with Wilson's disease. Pediatr Int. 1999;41:409-413.
  39. Genschel J, Czlonkowska A, Sommer G, et al. Three novel mutations (P760L, L1305P, Q1351Stop) causing Wilson disease. Human mutation. 2001;17:156.
  40. Olsson C, Waldenstrom E, Westermark K, et al. Determination of the frequencies of ten allelic variants of the Wilson disease gene (ATP7B), in pooled DNA samples. Eur J Hum Genet. 2000;8:933-938.
  41. Caca K, Ferenci P, Kuhn HJ, 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. Journal of hepatology. 2001;35:575-581.
  42. Seidel J, Caca K, Schwab SG, et al. Disturbed copper transport in humans. Part 2: mutations of the ATP7B gene lead to Wilson disease (WD). Cellular and molecular biology (Noisy-le-Grand, France). 2001;47 Online Pub:OL149-157.
  43. Firneisz G, Lakatos PL, Szalay F, et al. Common mutations of ATP7B in Wilson disease patients from Hungary. American journal of medical genetics. 2002;108:23-28.
  44. Ohya K, Abo W, Tamaki H, et al. Presymptomatic diagnosis of Wilson disease associated with a novel mutation of the ATP7B gene. European journal of pediatrics. 2002;161:124-126.
  45. Owada M, Suzuki K, Fukushi M, et al. Mass screening for Wilson's disease by measuring urinary holoceruloplasmin. The Journal of pediatrics. 2002;140:614-616.
  46. Iida M, Terada K, Sambongi Y, et al. Analysis of functional domains of Wilson disease protein (ATP7B) in Saccharomyces cerevisiae. FEBS letters. 1998;428:281-285.
  47. Payne AS, Kelly EJ, Gitlin JD. Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation. Proceedings of the National Academy of Sciences of the United States of America. 1998;95:10854-10859.
  48. Forbes JR, Cox DW. Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant? American journal of human genetics. 1998;63:1663-1674.
  49. Hamza I, Schaefer M, Klomp LW, et al. Interaction of the copper chaperone HAH1 with the Wilson disease protein is essential for copper homeostasis. Proceedings of the National Academy of Sciences of the United States of America. 1999;96:13363-13368.
  50. Forbes JR, Cox DW. Copper-dependent trafficking of Wilson disease mutant ATP7B proteins. Human molecular genetics. 2000;9:1927-1935.
  51. Wu ZY, Wang N, Lin MT, et al. Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients with Wilson disease. Archives of neurology. 2001;58:971-976.
  52. Fan Y, et al. Submitted. 2002
  53. Loudianos G, Lovicu M, Dessi V, et al. Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B. Human mutation. 2002;20:260-266.
  54. Xu P, Liang X, Jankovic J, et al. Identification of a high frequency of mutation at exon 8 of the ATP7B gene in a Chinese population with Wilson disease by fluorescent PCR. Archives of neurology. 2001;58:1879-1882.
  55. Loudianos G, Kostic V, Solinas P, et al. Characterization of the molecular defect in the ATP7B gene in Wilson disease patients from Yugoslavia. Genetic testing. 2003;7:107-112.
  56. 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.
  57. Vrabelova S, Vanova P, Kopeckova L, et al. [Molecular analysis of Wilson disease]. Casopis lekaru ceskych. 2002;141:642-645.
  58. Cox DW, unpublished mutations, July 2004
  59. Eapen CE, Santhosh S, Shaji RV, et al. Gene symbol: ATP7B. Disease: Wilson's disease. Human genetics. 2004;114:606.
  60. Todorov, T, submission, unpublished results
  61. Paptheodorou, A, submission, unpublished results
  62. Weirich G, Cabras AD, Serra S, et al. Rapid identification of Wilson's disease carriers by denaturing high-performance liquid chromatography. Preventive medicine. 2002;35:278-284.
  63. Al Jumah M, Majumdar R, Al Rajeh S, et al. A clinical and genetic study of 56 Saudi Wilson disease patients: identification of Saudi-specific mutations. Eur J Neurol. 2004;11:121-124.
  64. Huster D, Hoppert M, Lutsenko S, et al. Defective cellular localization of mutant ATP7B in Wilson's disease patients and hepatoma cell lines. Gastroenterology. 2003;124:335-345.
  65. Liu XQ, Zhang YF, Liu TT, et al. Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease. World J Gastroenterol. 2004;10:590-593.
  66. Deguti MM, Genschel J, Cancado EL, et al. Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients. Human mutation. 2004;23:398.
  67. Todorov, T, submission, unpublished results
  68. Margarit E, Bach V, Gomez D, et al. Mutation analysis of Wilson disease in the Spanish population -- identification of a prevalent substitution and eight novel mutations in the ATP7B gene. Clinical genetics. 2005;68:61-68.
  69. Pendlebury ST, Rothwell PM, Dalton A, et al. Strokelike presentation of Wilson disease with homozygosity for a novel T766R mutation. Neurology. 2004;63:1982-1983.
  70. Todorov, T, submission, unpublished results
  71. Todorov T, Savov A, Jelev H, et al. Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population. Clinical genetics. 2005;68:474-476.
  72. Garcia-Villarreal L, Daniels S, Shaw SH, et al. High prevalence of the very rare Wilson disease gene mutation Leu708Pro in the Island of Gran Canaria (Canary Islands, Spain): a genetic and clinical study. Hepatology (Baltimore, Md. 2000;32:1329-1336.
  73. Prasad R, Kaur G, Kumar S, et al. Two novel mutations (2976INSA, 4311insA) of ATP7B in a patient with Wilson's disease coexisting with glucose-6-phosphate dehydrogenase deficiency. Journal of gastroenterology and hepatology. 2005;20:660-662.
  74. Kumar S, Thapa BR, Kaur G, et al. Identification and molecular characterization of 18 novel mutations in the ATP7B gene from Indian Wilson disease patients: genotype. Clinical genetics. 2005;67:443-445.
  75. Gupta A, Aikath D, Neogi R, et al. Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients. Human genetics. 2005;118:49-57.
  76. Dedoussis GV, Genschel J, Sialvera TE, et al. Wilson disease: high prevalence in a mountainous area of Crete. Annals of human genetics. 2005;69:268-274.
  77. Caprai S, Loudianos G, Massei F, et al. Direct diagnosis of Wilson disease by molecular genetics. The Journal of pediatrics. 2006;148:138-140.
  78. Moller LB, Ott P, Lund C, et al. Homozygosity for a gross partial gene deletion of the C-terminal end of ATP7B in a Wilson patient with hepatic and no neurological manifestations. American journal of medical genetics. 2005;138:340-343.
  79. Cullen LM, Prat L, Cox DW. Genetic variation in the promoter and 5' UTR of the copper transporter, ATP7B, in patients with Wilson disease. Clinical genetics. 2003;64:429-432.
  80. Gromadzka G, Schmidt HH, Genschel J, et al. Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease. Clinical genetics. 2005;68:524-532.
  81. Wu ZY, Zhao GX, Chen WJ, et al. Mutation analysis of 218 Chinese patients with Wilson disease revealed no correlation between the canine copper toxicosis gene MURR1 and Wilson disease. Journal of molecular medicine (Berlin, Germany). 2006;84:438-442.
  82. Wan L, Tsai CH, Tsai Y, et al. Mutation analysis of Taiwanese Wilson disease patients. Biochemical and biophysical research communications. 2006;345:734-738.
  83. Leggio L, Addolorato G, Loudianos G, et al. A new mutation of Wilson's disease P-type ATPase gene in a patient with cirrhosis and coombs-positive hemolytic anemia. Digestive diseases and sciences. 2006;51:34-38.
  84. Mak CM, Tam S, Fan ST, et al. Wilson's disease: a patient undiagnosed for 18 years. Hong Kong medical journal = Xianggang yi xue za zhi / Hong Kong Academy of Medicine. 2006;12:154-158.
  85. Lam CW, Mak CM. Allele dropout in PCR-based diagnosis of Wilson disease: mechanisms and solutions. Clinical chemistry. 2006;52:517-520.
  86. Loudianos G, et al. Haplotype and mutation analysis in Mediterranean patients with Wilson Disease. The Journal of Trace Elements in Experimental Medicine. 1999;12:315-319.
  87. Gu YH, Kodama H, Du SL, et al. Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease. Clinical genetics. 2003;64:479-484.
  88. Hsi G, Cullen LM, Moira Glerum D, et al. Functional assessment of the carboxy-terminus of the Wilson disease copper-transporting ATPase, ATP7B. Genomics. 2004;83:473-481.
  89. Morgan CT, Tsivkovskii R, Kosinsky YA, et al. The distinct functional properties of the nucleotide-binding domain of ATP7B, the human copper-transporting ATPase: analysis of the Wilson disease mutations E1064A, H1069Q, R1151H, and C1104F. The Journal of biological chemistry. 2004;279:36363-36371.
  90. Okkeri J, Bencomo E, Pietila M, et al. Introducing Wilson disease mutations into the zinc-transporting P-type ATPase of Escherichia coli. The mutation P634L in the 'hinge' motif (GDGXNDXP) perturbs the formation of the E2P state. European journal of biochemistry / FEBS. 2002;269:1579-1586.
  91. Cater MA, La Fontaine S, Shield K, et al. ATP7B mediates vesicular sequestration of copper: insight into biliary copper excretion. Gastroenterology. 2006;130:493-506.
  92. Riordan SM, Williams R. The Wilson's disease gene and phenotypic diversity. Journal of hepatology. 2001;34:165-171.
  93. Maier-Dobersberger T, Ferenci P, Polli C, et al. Detection of the His1069Gln mutation in Wilson disease by rapid polymerase chain reaction. Annals of internal medicine. 1997;127:21-26.
  94. Houwen RH, Juyn J, Hoogenraad TU, et al. H714Q mutation in Wilson disease is associated with late, neurological presentation. Journal of medical genetics. 1995;32:480-482.
  95. Czlonkowska A, Rodo M, Gajda J, et al. Very high frequency of the His1069Gln mutation in Polish Wilson disease patients. Journal of neurology. 1997;244:591-592.
  96. Ivanova-Smolenskaya IA, Ovchinnikov IV, Karabanov AV, et al. The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease. Journal of medical genetics. 1999;36:174.
  97. Sundaresan S, Eapen CE, Shaji RV, et al. Screening for mutations in ATP7B gene using conformation-sensitive gel electrophoresis in a family with Wilson's disease. Med Sci Monit. 2007;13:CS38-40.
  98. Prella M, Baccala R, Horisberger JD, et al. Haemolytic onset of Wilson disease in a patient with homozygous truncation of ATP7B at Arg1319. British journal of haematology. 2001;114:230-232.
  99. Hsi G, Cullen LM, Macintyre G, et al. Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system. Human mutation. 2008;29:491-501.
  100. Thomas GR, Roberts EA, Walshe JM, et al. Haplotypes and mutations in Wilson disease. American journal of human genetics. 1995;56:1315-1319.
  101. Machado AA, Deguti MM, Genschel J, et al. Neurological manifestations and ATP7B mutations in Wilson's disease. Parkinsonism & related disorders. 2008;14:246-249.
  102. Cogulu O, Onay H, Ozgenc F, et al. Trigonocephaly and Wilson's disease in two siblings. Clinical dysmorphology. 2005;14:161-164.
  103. de Bie P, Muller P, Wijmenga C, et al. Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes. Journal of medical genetics. 2007;44:673-688.
  104. Mak CM, Lam CW, Tam S, et al. Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity. Journal of human genetics. 2008;53:55-63.
  105. Abdelghaffar TY, Elsayed SM, Elsobky E, et al. Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations. Journal of human genetics. 2008.
  106. Kumar S, Thapa BR, Kaur G, et al. Familial gene analysis for Wilson disease from north-west Indian patients. Annals of human biology. 2006;33:177-186.
  107. Mihaylova V, Todorov T, Tournev I, et al. A novel mutation in ATP7B gene associated with severe neurological and psychiatric symptoms. European neurology. 2006;55:99-100.
  108. Ray K, Gupta A. Gene symbol: ATP7B. Disease: Wilson's disease. Human genetics. 2005;118:541.
  109. Yang J, Chan P. Gene symbol: ATP7B. Disease: Wilson's disease. Human genetics. 2005;118:539.
  110. Beyersdorff A, Findeisen A. Morbus Wilson: Case report of a two-year-old child as first manifestation. Scandinavian journal of gastroenterology. 2006;41:496-497.
  111. Davies LP, Macintyre G, Cox DW. New mutations in the Wilson disease gene, ATP7B: implications for molecular testing. Genetic testing. 2008;12:139-145.
  112. Folhoffer A, Ferenci P, Csak T, et al. Novel mutations of the ATP7B gene among 109 Hungarian patients with Wilson's disease. European journal of gastroenterology & hepatology. 2007;19:105-111.
  113. Park S, Park JY, Kim GH, et al. Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease. Human mutation. 2007;28:1108-1113.
  114. Ye S, Gong L, Shui QX, et al. Wilson disease: identification of two novel mutations and clinical correlation in Eastern Chinese patients. World J Gastroenterol. 2007;13:5147-5150.
  115. Gupta A, Maulik M, Nasipuri P, et al. Molecular diagnosis of Wilson disease using prevalent mutations and informative single-nucleotide polymorphism markers. Clinical chemistry. 2007;53:1601-1608.
  116. Chappuis P, Callebert J, Quignon V, et al. 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;21:37-42.
  117. Balakrishnan P, Kabra M, Arora NK, et al. Gene symbol: ATP7B. Human genetics. 2007;120:917.
  118. Hayashi H, Wakusawa S, Yano M, et al. Genetic background of Japanese patients with adult-onset storage diseases in the liver. Hepatol Res. 2007;37:777-783.
  119. Brage A, Tome S, Garcia A, et al. Clinical and molecular characterization of Wilson disease in Spanish patients. Hepatol Res. 2007;37:18-26.
  120. Gupta A, Chattopadhyay I, Dey S, et al. Molecular pathogenesis of Wilson disease among Indians: a perspective on mutation spectrum in ATP7B gene, prevalent defects, clinical heterogeneity and implication towards diagnosis. Cellular and molecular neurobiology. 2007;27:1023-1033.
  121. Santhosh S, Shaji RV, Eapen CE, et al. ATP7B mutations in families in a predominantly Southern Indian cohort of Wilson's disease patients. Indian J Gastroenterol. 2006;25:277-282.
  122. Kroll CA, Ferber MJ, Dawson BD, et al. Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease. Molecular genetics and metabolism. 2006;89:134-138.
  123. Shiono Y, Wakusawa S, Hayashi H, et al. Iron accumulation in the liver of male patients with Wilson's disease. The American journal of gastroenterology. 2001;96:3147-3151.
  124. Fan Y, Yu L, Han Y, et al. Identification of three novel insertion/deletion mutations in Wilson disease's gene. Biochemical genetics. 2004;42:377-384.
  125. Bost M, Lachaux A, Accominotti M, et al. Mutation Screening and Genotype-Phenotype Correlation in 32 Families With Wilson Disease. J Trace Elem Exp Med. 1999;12:321-329.
  126. Zappu A, Magli O, Lepori MB, et al. High incidence and allelic homogeneity of Wilson disease in 2 isolated populations: a prerequisite for efficient disease prevention programs. Journal of pediatric gastroenterology and nutrition. 2008;47:334-338.
  127. Santhosh S, Shaji RV, Eapen CE, et al. Genotype phenotype correlation in Wilson's disease within families-a report on four south Indian families. World J Gastroenterol. 2008;14:4672-4676.
  128. Majumdar R, Al-Jumah M, Zaidan R. A rare homozygous missense mutation in ATP7B exon 19 in a case of Wilson disease. European neurology. 2004;51:52-54.
  129. Panagiotakaki E, Tzetis M, Manolaki N, et al. Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B). American journal of medical genetics. 2004;131:168-173.
  130. Choi JS, Lee JH, Ki CS. [A korean family with Wilson disease occurred in two consecutive generations.]. The Korean journal of laboratory medicine. 2006;26:449-453.
  131. Lepori MB, Lovicu M, Dessi V, et al. Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin. Genetic testing. 2007;11:328-332.
  132. Vrabelova S, Letocha O, Borsky M, et al. Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. Molecular genetics and metabolism. 2005;86:277-285.
  133. Karunas AS, Mersiianova IV, Poliakov AV, et al. [Analysis of mutations and haplotypes of polymorphic markers in patients with Wilson-Konovalov disease from Bashkir]. Genetika. 2000;36:972-979.
  134. Kok KF, Hoevenaars B, Waanders E, et al. Value of molecular analysis of Wilson's disease in the absence of tissue copper deposits: a novel ATP7B mutation in an adult patient. The Netherlands journal of medicine. 2008;66:348-350.
  135. Prat Davies LM, Bugbee D, submitted, June 2004-July 2008
  136. Ray K, Gupta A. Gene symbol: ATP7B. Disease: Wilson disease. Human genetics. 2008;124:297.
  137. Kucinskas L, Jeroch J, Vitkauskiene A, et al. High frequency of the c.3207C>A (p.H1069Q) mutation in ATP7B gene of Lithuanian patients with hepatic presentation of Wilson's disease. World J Gastroenterol. 2008;14:5876-5879.
  138. Cheng, Nan, submitted, March 12, 2009
  139. Hladnik, Uros, submitted, May 29, 2009
  140. Majeed, Asifa, submitted, May 28, 2009
  141. Papur, Ozlenen Simsek, submitted, May 14, 2009
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