Clinical and molecular characterization of Wilson disease in Spanish patients
Author:
Publisher
Wiley
Subject
Infectious Diseases,Hepatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1872-034X.2007.00010.x/fullpdf
Reference39 articles.
1. Wilson disease;Gitlin;Gastroenterology,2003
2. Wilson disease: pathophysiology, diagnosis, treatment, and screening;Ala;Clin Liver Dis,2004
3. Estimate of the frequency of Wilson’s disease in the US Caucasian population: a mutation analysis approach;Olivarez;Ann Hum Genet,2001
4. Wilson disease: genetic basis of copper toxicity and natural history;Schilsky;Semin Liver Dis,1996
5. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene;Bull;Nat Genet,1993
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1. Wilson Disease Prevalence: Discrepancy Between Clinical Records, Registries and Mutation Carrier Frequency;Journal of Pediatric Gastroenterology & Nutrition;2021-10-05
2. Wilson disease: revision of diagnostic criteria in a clinical series with great genetic homogeneity;Journal of Gastroenterology;2020-11-07
3. ATP7B variant c.1934T > G p.Met645Arg causes Wilson disease by promoting exon 6 skipping;npj Genomic Medicine;2020-04-08
4. Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population;Scientific Reports;2019-05-09
5. Epidemiology of Wilson Disease;Wilson Disease;2019
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