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Article

Novel regulatory variant in ABO intronic RUNX1 binding site inducing A3 phenotype.

Vox sanguinis - 1 Apr 2024

Thun Gian Andri, Gueuning Morgan, Sigurdardottir Sonja, Meyer Eduardo, Gourri Elise, Schneider Linda, Merki Yvonne, Trost Nadine, Neuenschwander Kathrin, Engström Charlotte, Frey Beat M, Meyer Stefan, Mattle-Greminger Maja P

Abstract excerpt

BACKGROUND AND OBJECTIVES: Mixed-field agglutination in ABO phenotyping (A3, B3) has been linked to genetically different blood cell populations such as in chimerism, or to rare variants in either ABO exon 7 or regulatory regions. Clarification of such cases is challenging and would greatly benefit from sequencing technologies that allow resolving full-gene haplotypes at high resolution. MATERIALS AND METHODS: We...

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PMID: 38226545
DOI: 10.1111/vox.13580

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