Article
A novel frameshift mutation (+A) at codon 18 of the beta-globin gene associated with high persistence of fetal hemoglobin phenotype and deltabeta-thalassemia.
Acta haematologica - 1 Jan 2008
Feriotto Giordana, Salvatori Francesca, Finotti Alessia, Breveglieri Giulia, Venturi Marina, Zuccato Cristina, Bianchi Nicoletta, Borgatti Monica, Lampronti Ilaria, Mancini Irene, Massei Francesco, Favre Claudio, Gambari Roberto
Abstract excerpt
We report in this paper a novel thalassemia mutation (insertion of a single A nucleotide within the exon 1, at codon 18, of the beta-globin gene) associated with a deletion of the deltabeta-globin gene region, in a patient exhibiting high persistence of fetal hemoglobin. The novel mutation causes a frameshift with the generation of a UGA stop codon. Analysis of the parent's DNA demonstrates that the A insertion...
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