Have a personal or library account? Click to login

Mutations of ATP7B gene in two Thai siblings with Wilson disease

Open Access
|Apr 2018

References

  1. 1. Frydman M. Genetic aspects of Wilson’s disease. J Gastroenterol Hepatol. 1990; 5:483-90.10.1111/j.1440-1746.1990.tb01427.x
  2. 2. Roberts EA, Schilsky ML. Diagnosis and treatment of Wilson disease: an update. Hepatology. 2008; 47: 2089-111. 10.1002/hep.22261
  3. 3. Scheinberg IH, Sternlieb I. Wilson’s disease. Philadelphia:WB Saunders, 1984.
  4. 4. Cox DW, Roberts ER .Wilson disease. GeneReviews. 2006 [cited 2009 May 07] Available from: http:www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=wilson10.1016/B978-1-4160-3258-8.50071-1
  5. 5. Gibbs K, Walshe JM. Biliary excretion of copper in Wilson’s disease. Lancet. 1980; 2:538-9.10.1016/S0140-6736(80)91863-2
  6. 6. Davies LP. Wilson Disease Mutation Databases. 2009 [cited 2009 May 07] Available from: http://www.wilsondisease.med.ualberta.ca/database.asp
  7. 7. Wattanasirichaigoon D, Benjaponpitak S, Techasaensiri C, Kamchaisatian W, Vichyanond P, Janwityanujit S, et al. Four novel and three recurrent mutations of the BTK gene and pathogenic effects of putative splice mutations. J Hum Genet. 2006; 51: 1006-14.10.1007/s10038-006-0052-y
  8. 8. Saito T. Presenting symptoms and natural history of Wilson disease. Eur J Pediatr. 1987; 146:261-5.10.1007/BF00716470
  9. 9. Treeprasertsuk W, Kurathong S, Phuapradit P. Wilson’s disease: a clinical study. Rama Med J. 1997; 20:84-90.
  10. 10. Ludwig J, Moyer TP, Rakela J. The liver biopsy diagnosis of Wilson’s disease. Methods in pathology. Am J Clin Pathol. 1994; 102:443-6.10.1093/ajcp/102.4.443
  11. 11. Davies, LP, Macintyre G, Cox DW. New mutations in the Wilson disease gene, ATP7B: implications for molecular testing. Genet Test. 2008; 12:139-45.10.1089/gte.2007.0072
  12. 12. Cullen LM, Prat L, Cox DW. Genetic variation in the promoter and 5' UTR of the copper transporter, ATP7B, in patients with Wilson disease. Clin Genet. 2003; 64: 429-32.10.1034/j.1399-0004.2003.00160.x
  13. 13. Loudianos G, Dessi V, Lovicu M, Angius A, Figus A, Lilliu F, et al. Molecular characterization of wilson disease in the Sardinian population-evidence of a founder effect. Hum Mutat. 1999; 14:294-303.10.1002/(SICI)1098-1004(199910)14:4<;294::AID-HUMU4>3.0.CO;2-9
  14. 14. Nanji MS, Nguyen VT, Kawasoe JH, Inui K, Endo F, Nakajima T, et al. Haplotype and mutation analysis in Japanese patients with Wilson disease. Am J Hum Genet. 1997; 60:1423-9.10.1086/51545917161379199563
  15. 15. Mak CM, Lam CW, Tam S, Lai CL, Chan LY, Fan ST, et al. Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity. J Hum Genet. 2008; 53:55-63.10.1007/s10038-007-0218-218034201
  16. 16. Yuzbasiyan-Gurkan V, Grider A, Nostrant T, Cousins RJ, Brewer GJ. Treatment of Wilson’s disease with zinc: X. Intestinal metallothionein induction. J Lab Clin Med. 1992; 120:380-6.
  17. 17. Hill GM, Brewer GJ, Prasad AS, Hydrick CR, Hartmann DE. Treatment of Wilson’s disease with zinc. I. Oral zinc therapy regimens. Hepatology. 1987; 7:522-8.10.1002/hep.18400703183570163
  18. 18. Wu ZY, Wang N, Lin MT, Fang L, Murong SX, Yu L. Mutation and the correlation between genotype and phenotype of Arg778Leu mutation in Chinese patients with Wilson disease. Arch Neurol. 2001; 58:971-6.10.1001/archneur.58.6.97111405812
  19. 19. Liu XQ, Zhang YF, Liu TT, Hsiao KJ, Zhang JM, Gu XF, et al. Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease. World J Gastroenterol. 2004; 10:590-3.10.3748/wjg.v10.i4.590471698614966923
DOI: https://doi.org/10.2478/abm-2010-0020 | Journal eISSN: 1875-855X | Journal ISSN: 1905-7415
Language: English
Page range: 163 - 169
Published on: Apr 13, 2018
Published by: Chulalongkorn University
In partnership with: Paradigm Publishing Services
Publication frequency: 6 times per year

© 2018 Suporn Treepongkaruna, Paneeya Pienvichit, Pornpimon Phuapradit, Porawee Kodcharin, Duangrurdee Wattanasirichaigoon, published by Chulalongkorn University
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.