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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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2021
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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 |