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Characterization of a novel HBB:c.194dup variant of the β-globin gene combined with six alpha genes
β-thalassemia (β-thal) is one of the most prevalent inherited blood disorders in Ganzhou, south China. Next-generation sequencing was used to screen for thalassemia carriers in the general population. During the screening, we identified a novel β-thal variant in a 46-year-old Chinese man, which was...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
SAGE Publications
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9112789/ https://www.ncbi.nlm.nih.gov/pubmed/35549527 http://dx.doi.org/10.1177/03000605221099013 |