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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...

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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:J Clin Lab Anal
Egile Nagusiak: Xu, Anjian, Lv, Tingxia, Zhang, Bei, Zhang, Wei, Ou, Xiaojuan, Huang, Jian
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: John Wiley and Sons Inc. 2016
Gaiak:
Sarrera elektronikoa: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
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