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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Salvato in:
Dettagli Bibliografici
Pubblicato in:Theranostics
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Ivyspring International Publisher 2016
Soggetti:
Research Paper
Accesso online: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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