Article
Evaluation of the Function of a Rare Variant in the 3'-Untranslated Region of the β-Globin Gene.
Hemoglobin - 1 Nov 2022
Targholi Sogol, Noormohammadi Zahra, Tafsiri Elham, Karimipoor Morteza
Abstract excerpt
β-Thalassemia (β-thal) is an inherited genetic disease that occurs because of the absence or reduction of β-globin chain synthesis. Genetic changes occur in different regions of the β-globin gene, but these mutations are less reported in the 3' untranslated region (3'-UTR). The objective of the present investigation was to evaluate the functional effect of a rare variant in the 3'-UTR of the β-globin gene. A...
Read the complete abstract on PubMedTopics
- Humans
- 3' Untranslated Regions
- HEK293 Cells
- Erythroid Cells
- Mutation
- beta-Globins
