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Clinical and genetic characterization of a large cohort of patients with Wilson’s disease in China

BACKGROUND: Wilson’s disease (WD) is an autosomal recessive disorder of copper metabolism caused by ATP7B (encoding a copper-transporting P-type ATPase) variants that shows various characteristics according to race and geographical region. This study was aimed to provide a comprehensive analysis of...

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Detalles Bibliográficos
Autores principales: Zhang, Shijie, Yang, Wenming, Li, Xiang, Pei, Pei, Dong, Ting, Yang, Yue, Zhang, Jing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8883683/
https://www.ncbi.nlm.nih.gov/pubmed/35220961
http://dx.doi.org/10.1186/s40035-022-00287-0