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A novel A allele with c.963_964insC mutation identified in a Chinese individual

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As the first discovered blood group system, the ABO blood group system occupies an important position in transfusion practice. Many variants at the ABO locus have been researched through genotyping,… Click to show full abstract

As the first discovered blood group system, the ABO blood group system occupies an important position in transfusion practice. Many variants at the ABO locus have been researched through genotyping, so as to disclose the genetic heterogeneity that can explain serologically defined ABO subgroups. These ABO variants can alter the specificity or activity of ABO transferase, which may affect the expression of A/B antigen and then cause different ABO phenotypes. Up to now, many A variant alleles have been determined and reported. Here, a novel A allele identified in a Chinese individual is introduced.

Keywords: identified chinese; 963 964insc; novel allele; 964insc mutation; chinese individual; allele 963

Journal Title: Transfusion
Year Published: 2020

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