Article
Does size matter? Two new deletions in the HBB gene cause β0-thalassemia.
Annals of hematology - 1 Jul 2022
Ropero Paloma, González Fernández Fernando Ataúlfo, Nieto Jorge M, Recasens Valle, Montañés Ángeles, Murúzabal María José, Sarasa María, Fernández Cristina, Villegas Ana, Benavente Cuesta C
Abstract excerpt
Most β-thalassemias are caused by mutations involving one or a limited number of nucleotides within the gene or its adjacent regions. They can be substitutions or deletions; in these cases, the loss ranges from a single nucleotide to even the entire HBB gene, so we wonder if the phenotype is due to the size of the deletion or the location of the mutation. To clarify this, we present two new deletions in the...
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