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Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson’s disease: a case report

BACKGROUND: Wilson’s disease (WD) is an autosomal recessive disorder characterized by copper accumulation. ATP7B gene mutations lead to ATP7B protein dysfunction, which in turn causes Wilson’s disease. CASE PRESENTATION: We describe a male case of Wilson’s disease diagnosed at 10 years after routine...

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Detalles Bibliográficos
Autores principales:	Liu, Gang, Ma, Dingyuan, Cheng, Jian, Zhang, Jingjing, Luo, Chunyu, Sun, Yun, Hu, Ping, Wang, Yuguo, Jiang, Tao, Xu, Zhengfeng
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5898064/ https://www.ncbi.nlm.nih.gov/pubmed/29649982 http://dx.doi.org/10.1186/s12881-018-0567-z

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