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应用靶向二代测序诊断疑诊先天性贫血46例
OBJECTIVE: To evaluate the impact of the targeted next-generation sequencing (NGS) assay for difficult congenital anemias. METHODS: Blood Disease Hospital Anemia Panel 2014 (BDHAP-2014) including 217 known genes of congenital anemias was developed. NGS and parental verification were performed for pa...
| Formato: | Online Artículo Texto |
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| Lenguaje: | English |
| Publicado: |
Editorial office of Chinese Journal of Hematology
2018
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7342894/ https://www.ncbi.nlm.nih.gov/pubmed/29779353 http://dx.doi.org/10.3760/cma.j.issn.0253-2727.2018.05.014 |