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Identification of four novel large deletions and complex variants in the α-globin locus in Chinese population
BACKGROUND: At present, the methods generally used to detect α-thalassemia mutations are confined to detecting common mutations, which may lead to misdiagnosis or missed diagnosis. The single-molecule real-time (SMRT) sequencing enables long-read single-molecule sequencing with high detection accura...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10127377/ https://www.ncbi.nlm.nih.gov/pubmed/37098594 http://dx.doi.org/10.1186/s40246-023-00486-4 |