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,...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2025-03-01
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| Series: | Frontiers in Genetics |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2025.1518392/full |