Genetic analysis of 55 northern Vietnamese patients with Wilson disease: seven novel mutations in ATP7B
Author:
Funder
National Foundation for Science and Technology Development (NAFOSTED), Vietnam
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
http://link.springer.com/article/10.1007/s12041-017-0857-9/fulltext.html
Reference30 articles.
1. Aggarwal A., Chandhok G., Todorov T., Parekh S., Tilve S., Zibert A. et al. 2013 Wilson disease mutation pattern with genotype-phenotype correlations from Western India: confirmation of p.C271* as a common Indian mutation and identification of 14 novel mutations. Ann. Hum. Genet. 77, 299–307.
2. Bull P. C., Thomas G. R., Rommens J. M., Forbes J. R. and Cox D. W. 1993 The wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat. Genet. 5, 327–337.
3. Coffey A. J., Durkie M., Hague S., McLay K., Emmerson J., Lo C. et al. 2013 A genetic study of Wilson’s disease in the United Kingdom. Brain 136, 1476–1487.
4. Diao S. P., Hong M. F., Huang Y. Q., Wei Z. S., Su Q. X., Peng Z. X. et al. 2014 Identification and characterization of a novel splice-site mutation in the Wilson disease gene. J. Neurol. Sci. 345, 154–158.
5. Duc H. H., Hefter H., Stremmel W., Castaneda-Guillot C., Hernandez A., Cox D. W. et al. 1998 His1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype. Eur. J. Hum. Genet. 6, 616–623.
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