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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...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2022
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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 |