Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis

Background: Wilson's disease (WD) is an autosomal recessive disorder of copper metabolism caused by ATP7B pathogenic mutations. The symptoms of WD can be effectively prevented if the affected individuals are identified and intervened early. However, clinical utility of this molecular analysis i...

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Vydáno v:Theranostics
Hlavní autoři: Dong, Yi, Ni, Wang, Chen, Wan-Jin, Wan, Bo, Zhao, Gui-Xian, Shi, Zhu-Qing, Zhang, Yue, Wang, Ning, Yu, Long, Xu, Jian-Feng, Wu, Zhi-Ying
Médium: Artigo
Jazyk:Inglês
Vydáno: Ivyspring International Publisher 2016
Témata:
Research Paper
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4805659/
https://ncbi.nlm.nih.gov/pubmed/27022412
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7150/thno.14596
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