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...

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Detalles Bibliográficos
Autores principales: Espinós, Carmen, Ferenci, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7322184/
https://www.ncbi.nlm.nih.gov/pubmed/32613181
http://dx.doi.org/10.1016/j.jhepr.2020.100114

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7322184/
https://www.ncbi.nlm.nih.gov/pubmed/32613181
http://dx.doi.org/10.1016/j.jhepr.2020.100114

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