Two novel deletion mutations in β-globin gene cause β-thalassemia trait in two Chinese families
Abstract Background β-Thalassemia is mainly caused by point mutations in the β-globin gene cluster. With the rapid development of sequencing technic, more and more variants are being discovered. Results In this study, we found two novel deletion mutations in two unrelated families, HBB: c.180delG (t...
Main Authors: | , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2023-12-01
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Series: | Human Genomics |
Subjects: | |
Online Access: | https://doi.org/10.1186/s40246-023-00559-4 |