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Detection of a rare beta-globin nonsense mutation [codon 59 (AAG-->TAG)] in an Italian family.

Hemoglobin - 1 Jan 2006

Amato Antonio, Pia Cappabianca Maria, Ponzini Donatella, Di Biagio Paola, Colosimo Alessia, Guida Valentina, Mastropietro Fabrizio, Foglietta Enrica, Grisanti Paola, Rinaldi Silvana, Dallapiccola Bruno, Bianco Ida

Abstract excerpt

In this study we report on the hematological and molecular findings of a family from Central Italy, whose 33-year-old male proband presented with a beta0-thalassemia (thal) trait associated to a relevant Hb F level. The proband and his family (parents and a sister) were investigated by hematological analysis. The two beta-thal carriers of the beta-globin nonsense mutation [codon 59 (AAG-->TAG)] (the proband and...

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PMID: 16840234
DOI: 10.1080/03630260600755948

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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