Article
First Detection of the -27 (A > G) (HBB: c.-77A > G) Mutation of the β-Globin Gene in a Chinese Family.
Hemoglobin - 1 Jan 2016
Wu Man-Yu, Li Dong-Zhi
Abstract excerpt
We present the first description of a novel β-thalassemia (β-thal) mutation in a Chinese family. This mutation is located at -27 of the TATA box in the promoter of the β-globin gene (HBB: c.-77A > G) and is likely associated with a phenotype of β(+)-thalassemia (β(+)-thal).
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