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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...
Autores principales: | Kattamis, Christos, Skafida, Myrto, Delaporta, Polyxeni, Vrettou, Christina, Traeger-Synodinos, Joanne, Sofocleous, Christalena, Kattamis, Antonis |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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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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