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Article

Two Novel and Five Rare Mutations in the Non Coding Regions of the β-Globin Gene in the Iranian Population.

Hemoglobin - 1 Jul 2020

Hamid Mohammad, Zargan Nezhad Ebtesam, Keikhaei Bijan, Galehdari Hamid, Saberi Alihossein, Sedaghat Alireza, Mohammadi-Anaei Marziye, Shariati Gholamreza

Abstract excerpt

β-Thalassemia (β-thal) is one of the most frequent genetic disorder in Iran with great mutational diversity. In this study, we describe two novel and five rare mutations in the non coding regions of the β-globin gene; these mutations were identified in the non coding regions of the β-globin gene (HBB) in the heterozygous state. Three alterations were detected in the promoter region, including -9 (C>G) [HBB:...

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PMID: 32672086
DOI: 10.1080/03630269.2020.1790384

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