References
Kim EK, Yoo OJ, Song KY, Yoo HW, Choi SY, Cho SW, Hahn SH (1998) Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease. Hum Mutat 11: 275–278
Stromeyer FW, Ishak KG (1980) Histology of the liver in Wilson's disease. A study of 34 cases. Am J Clin Pathol 73: 1224
Wilson DC, Phillips J, Cox DC, Roberts EA (2000) Severe hepatic Wilson's disease in preschool-aged children. J Pediatr 137:719–722
Yamaguchi A, Matsuura A, Arashima S, Kikuchi Y, Kikuchi K (1998) Mutations of ATP7B gene in Wilson disease in Japan: identification of nine mutations and lack of clear founder effect in a Japanese population. Hum Mutat [Suppl] 1: 320–322
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Ohya, K., Abo, W., Tamaki, H. et al. Presymptomatic diagnosis of Wilson disease associated with a novel mutation of the ATP713 gene. Eur J Pediatr 161, 124–126 (2002). https://doi.org/10.1007/s00431-001-0865-9
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00431-001-0865-9