Pathogenicity of Intronic and Synonymous Variants of ATP7B in Wilson Disease.

Abstract excerpt

Wilson disease (WD) is a hereditary disorder of copper metabolism, resulting from mutations within ATP7B. Early diagnosis is essential for affected individuals. However, there are still patients with clinically suspected WD who do not have detectable pathogenic variants, which makes diagnosis difficult and delays treatment. This study included such patients from the authors' center and screened for the...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Copper-Transporting ATPases
• Share to Hepatolenticular Degeneration