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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:
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