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Identification of a novel missense variant (c.911G>A, p. Ser304Asn) in ABO gene in a Tibetan individual

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The ABO system is the most important blood system in transfusion medicine, which contains four major ABO phenotypes: A, B, O, and AB. Some variants in the ABO gene may… Click to show full abstract

The ABO system is the most important blood system in transfusion medicine, which contains four major ABO phenotypes: A, B, O, and AB. Some variants in the ABO gene may lead to weak A or B subgroups (e.g., A3, Am, Ax, Ael, B3, Bm, Bx, Bel), which are usually recognized by apparent discrepancies between the forward and reverse results. Recently, we identified a novel missense variant in the exon 7 of the ABO gene in a Tibetan woman with the Bel phenotype. Here, we report the identification of the novel Bel allele.

Keywords: novel missense; missense variant; abo; gene tibetan; abo gene

Journal Title: Transfusion
Year Published: 2023

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