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

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 an...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:JHEP Rep
Egile Nagusiak: Espinós, Carmen, Ferenci, Peter
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Elsevier 2020
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC7322184/
https://ncbi.nlm.nih.gov/pubmed/32613181
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jhepr.2020.100114
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