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c.586T>C mutation on the ABO*A1.02 allele responsible for Ael phenotype

ABO subgroups result from ABO gene variants which brings about the ABO typing discrepancy. ABO*A1.01 allele is used as a reference for the sequences of all other ABO alleles. Many… Click to show full abstract

ABO subgroups result from ABO gene variants which brings about the ABO typing discrepancy. ABO*A1.01 allele is used as a reference for the sequences of all other ABO alleles. Many of the A suballeles contain an ABO*A1.02 allele-specific mutation c.467C>T in the Chinese Han population. Here, we describe a novel A allele with c.467C>T and c.586T>C mutations that were identified in a pregnant Chinese woman with an Ael phenotype.

Keywords: 586t mutation; abo; ael phenotype; abo allele; mutation abo

Journal Title: Transfusion
Year Published: 2022

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