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Hb Aubenas (beta-26(B8)Glu fwdarw Gly): A new variant normally synthesized, affecting the same codon as in Hb E


, : Hb Aubenas (beta-26(B8)Glu fwdarw Gly): A new variant normally synthesized, affecting the same codon as in Hb E. Hemoglobin 20(2): 113-124

Hb Aubenas (beta-26(B8)Glu fwdarw Gly) is a mildly unstable variant that was found in a French family without hematological or clinical features. The structural abnormality was determined by protein chemistry methods, including tandem mass spectrometry, and was confirmed by Apa l digestion of a polymerase chain reaction-amplified DNA fragment. Although the substitution involves the same residue as in Hb E, the new nucleotide sequence does not create an additional out-of-frame splice site.

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