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Are the new genetic tools for diagnosis of Wilson disease helpful in clinical practice?

18 Apr 2020

Abstract excerpt

The diagnosis of Wilson disease is not always easy. For many patients, a combination of tests reflecting disturbed copper metabolism may be needed. Testing for ATP7B variants has become part of the routine diagnostic approach. The methods of genetic testing include analysis of the 21 coding exons and intronic flanking sequences, in which exons with recurrent variants would be prioritised depending on the mutation...

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PMID: 32613181
DOI: 10.1016/j.jhepr.2020.100114

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