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Identification of a novel B allele with missense mutation (c.98G > C) in the ABO gene

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A BO is considered one of the most clinically relevant blood group systems in both transfusion and transplantation medicine. Since the discovery of the ABO gene, several hundred variant alleles… Click to show full abstract

A BO is considered one of the most clinically relevant blood group systems in both transfusion and transplantation medicine. Since the discovery of the ABO gene, several hundred variant alleles resulting in subtypes have been characterized and reported in the Blood Group Antigen Gene Mutation Database. In this report, we present a novel missense mutation (c.98G>C) in Exon 2 of the ABO gene with a B subtype that has been identified in a Chinese individual.

Keywords: mutation 98g; abo gene; missense mutation; identification novel; gene

Journal Title: Transfusion
Year Published: 2017

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