Detection of a novel large fragment deletion in the alpha-globin gene cluster using the CNVplex technology
ObjectiveTo describe the characterization of a novel deletion causing α-thalassemia.MethodsThe proband was a 4-year-old boy who presented with abnormal hematological parameters identified during routine blood investigation conducted for a cold. Three common α-globin gene deletions, three mutations,...
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| Huvudupphov: | , , , , , , , , , |
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| Materialtyp: | Artigo |
| Språk: | Inglês |
| Utgiven: |
Frontiers Media S.A.
2025-03-01
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| Serie: | Frontiers in Genetics |
| Ämnen: | |
| Länkar: | https://www.frontiersin.org/articles/10.3389/fgene.2025.1518392/full |
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