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Development and evaluation of an unlabeled probe high‐resolution melting assay for detection of ATP7B mutations in Wilson's disease
BACKGROUND: Wilson's disease (WD) is a rare autosomal recessive disorder characterized by the deposition of copper mainly in the liver or nerve system that leads to their dysfunction. Mutations in the gene encoding ATPase, Cu+ transporting, beta polypeptide (ATP7B) are causative for WD. The aim...
Shranjeno v:
| izdano v: | J Clin Lab Anal |
|---|---|
| Main Authors: | , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
John Wiley and Sons Inc.
2016
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6817005/ https://ncbi.nlm.nih.gov/pubmed/27638368 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jcla.22064 |
| Oznake: |
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