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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ivyspring International Publisher 2016
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4805659/
https://www.ncbi.nlm.nih.gov/pubmed/27022412
http://dx.doi.org/10.7150/thno.14596

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4805659/
https://www.ncbi.nlm.nih.gov/pubmed/27022412
http://dx.doi.org/10.7150/thno.14596

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