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Heterozygosity of the Complex Corfu δ(0)β(+) Thalassemic Allele (HBD Deletion and HBB:c.92+5G>A) Revisited

SIMPLE SUMMARY: The Corfu δ(0)β(+) thalassemic allele, a unique thalassemic allele combining a deletion of the δ-globin (HBD) and a single nucleotide variant in the β-globin gene (HBB) in cis has, so far, been described only in individuals of Greek origin. The heterozygosity of Corfu δ(0)β(+) is det...

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Detalles Bibliográficos
Autores principales: Kattamis, Christos, Skafida, Myrto, Delaporta, Polyxeni, Vrettou, Christina, Traeger-Synodinos, Joanne, Sofocleous, Christalena, Kattamis, Antonis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8944986/
https://www.ncbi.nlm.nih.gov/pubmed/35336809
http://dx.doi.org/10.3390/biology11030432

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