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A new Frameshift mutation on the α2-globin gene causing α⁺-thalassemia: codon 43 (TTC>-TC or TTC>T-C)
Philippe Joly1, Philippe Lacan, Caroline Garcia
1Unité de Pathologie Moléculaire du Globule Rouge, Hôpital Edouard Herriot, Lyon, France.
Hemoglobin
|June 29, 2012
Abstract:
We report a new mutation on the α2-globin gene causing α(+)-thalassemia (α(+)-thal) with a deletion of a single nucleotide (T) at amino acid residue 43 [HBA2:c.130delT or HBA2:c.131delT]. This frameshift deletion gives rise to a premature termination codon at codon 47.
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