New Mutations in the Wilson Disease Gene, ATP7B: Implications for Molecular Testing
Author:
Affiliation:
1. Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.
Publisher
Mary Ann Liebert Inc
Subject
Genetics(clinical)
Link
http://www.liebertpub.com/doi/pdf/10.1089/gte.2007.0072
Reference23 articles.
1. Wilson disease in septuagenarian siblings: Raising the bar for diagnosis
2. Wilson disease and Menkes disease: new handles on heavy-metal transport
3. The Wilson disease gene is a putative copper transporting P–type ATPase similar to the Menkes gene
4. Twenty-four novel mutations in Wilson disease patients of predominantly European ancestry
5. Genetic variation in the promoter and 5′ UTR of the copper transporter, ATP7B , in patients with Wilson disease
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