Novel nonsense mutation in the α1-globin gene [HBA1:C.49A>T] is responsible for non-deletion α-thalassemia.
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DOI: 10.1016/j.clinbiochem.2018.10.015
Abstract: BACKGROUND In the α-thalassemia one of the less frequent mechanisms is the nonsense mutations, which generate the substitution of a triplet that encodes an amino acid for a stop codon and, therefore, protein synthesis stops… read more here.
Keywords: thalassemia; globin; gene; nonsense mutation ... See more keywords