Molecular mechanism of a novel Aweak subtype in Chinese pedigrees: identification and analysis of a large genomic deletion in the promoter upstream distal region of the ABO gene.

Abstract excerpt

BACKGROUND: Accurate ABO typing is essential for transfusion safety, yet weak A/B subgroups continue to present diagnostic challenges. Although most weakened ABO antigen expressions are linked to missense mutations or small indels within coding regions, the contribution of non-coding regulatory variants -especially large structural alterations-remains insufficiently characterized. Standard genotyping methods,...

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