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original-report | 30-November-2020

New ABO intron 1 variant alleles

(Case 13), ABO*O.01.01 (Case 14), and ABO*O.01.02 (Case 15) (Table 2). Discussion To the best of our knowledge, ABO*A(28+5788T) is the first allele with a variant at the inverted GATA-1 site (positions c.28+5784 to c.28+5789 in the intron 1 enhancer element) found in association with an altered ABO phenotype. Based on the alignment of direct and inverted versions of ABO*A(28+5839A) sequence to the C/EBP consensus binding site (Fig. 2), variant c.28+5839G>A has the potential to alter the consensus

K. Fennell, M.A. Keller, M.A. Villa, C. Paccapelo, M. Kucerakova, J. Rosochova, C. Clemente DosSantos, L. Brackney, C.J. Lee, R. Metcalf, G. Crovetti, M. Barbieri, S. Travali, G. Barrotta, G. Giuca, L.E. Guerra, G. Ochoa-Garay

Immunohematology, Volume 37 , ISSUE 4, 178–184

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