1.
Hemoglobin
; 43(4-5): 280-282, 2019.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31476942
RESUMO
We identified a novel mutation of ß-thalassemia (ß-thal) in a heterozygous carrier from Azerbaijan. Phenotypical data and molecular mechanisms of codon 2 (-T) (HBB: c.9delT) was relevant to ß0-thal. Additionally, we here report two new mutations on the HBB gene, not observed previously, in the local population as well as a non causative promoter mutation -198 (A>G) (HBB: c.-248A>G).