Spectrum of Mutations in the ATP7B Gene in Russian Patients with Wilson’s Disease
Author:
Publisher
Pleiades Publishing Ltd
Subject
Genetics
Link
http://link.springer.com/content/pdf/10.1134/S1022795419120020.pdf
Reference15 articles.
1. Schilsky, M.L., Wilson disease: genetic basis of copper toxicity and natural history, Semin. Liver Dis., 1996, no. 16, pp. 83—95. https://doi.org/10.1055/s-2007-1007221
2. Gollan, J.L. and Gollan, T.J., Wilson disease in 1998: genetic, diagnostic and therapeutic aspects, J. Hepatol., 1998, suppl. 1, pp. 28—36.
3. Tanzi, R.E., Petrukhin, K., Chernov, I., et al., The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene, Nat. Genet., 1993, no. 5, pp. 344—350. https://doi.org/10.1038/ng1293-344
4. Ferenci, P., Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing, Hum. Genet., 2006, no. 120, pp. 151—159. https://doi.org/10.1007/s00439-006-0202-5
5. Behari, M. and Pardasani, V., Genetics of Wilsons disease, Parkinsonism Relat. Disord., 2010, no. 16, pp. 639—644. https://doi.org/10.1016/j.parkreldis.2010.07.007
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1. Wilson’s Disease Caused by Previously Undescribed Homozygous Nucleotide Variant of the <i>ATP7B</i> Gene: Clinical Cases;Current Pediatrics;2024-05-05
2. Analysis of mutations spectrum in the ATP7B gene in patients with Wilson disease using massively parallel sequencing;Russian Clinical Laboratory Diagnostics;2022-04-17
3. Modifier Genes as a Cause of Wilson–Konovalov Disease Clinical Polymorphism;Russian Journal of Genetics;2021-05
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