Carrier frequency of Wilson’s disease in the Korean population: a DNA-based approach
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/jhg201749.pdf
Reference22 articles.
1. Shah, A. B., Chernov, I., Zhang, H. T., Ross, B. M., Das, K., Lutsenko, S. et al. Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses. Am. J. Hum. Genet. 61, 317–328 (1997).
2. Loudianos, G., Dessi, V., Lovicu, M., Angius, A., Nurchi, A., Sturniolo, G. C. et al. Further delineation of the molecular pathology of Wilson disease in the Mediterranean population. Hum. Mutat. 12, 89–94 (1998).
3. Kim, E. K., Yoo, O. J., Song, K. Y., Yoo, H. W., Choi, S. Y., Cho, S. W. et al. Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease. Hum. Mutat. 11, 275–278 (1998).
4. Yoo, H. W. Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease. Genet. Med. 4, 43S–48S (2002).
5. Park, S., Park, J. Y., Kim, G. H., Choi, J. H., Kim, K. M., Kim, J. B. et al. Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease. Hum. Mutat. 28, 1108–1113 (2007).
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