We identified a novel mutation of β-thalassemia (β-thal) in a heterozygous carrier from Azerbaijan. Phenotypical data and molecular mechanisms of codon 2 (-T) (: c.9delT) was relevant to β-thal. Additionally, we here report two new mutations on the gene, not observed previously, in the local population as well as a non causative promoter mutation -198 (A>G) (: c.-248A>G).
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| http://dx.doi.org/10.1080/03630269.2019.1657886 | DOI Listing |
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