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Pathogenic gene variation spectrum and carrier screening for Wilson’s disease in Qingdao area

BACKGROUND: Despite the increasing number of reports on the analysis of ATP7B variants, reports on carrier screening for Wilson's disease (WD, OMIM:277900) are rare. METHODS: Peripheral blood samples were collected from 42 patients from Qingdao Women and Children's Hospital diagnosed with...

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Detalles Bibliográficos
Autores principales:	Qiao, Lingyan, Ge, Juan, Li, Cheng, Liu, Yusheng, Hu, Conghui, Hu, Sicui, Li, Wenjie, Li, Tang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2021
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8404232/ https://www.ncbi.nlm.nih.gov/pubmed/34240825 http://dx.doi.org/10.1002/mgg3.1741

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