Article
Three novel Er blood group system alleles and insights from protein modeling.
Transfusion - 1 Sept 2024
Lane William J, Vege Sunitha, Mah Helen H, Ochoa-Garay Gorka, Lomas-Francis Christine, Westhoff Connie M
Abstract excerpt
BACKGROUND: The Er blood group system was recently shown to be defined by PIEZO1. The system consists of high prevalence antigens Era, Er3, ERSA, and ERAMA; and low prevalence antigen Erb. Era/Erb are antithetical with Er(a-b+) defined by the ER*B allele [c.7180G>A p.(Gly2394Ser)]. A nonsense variant c.5289C>G p.(Tyr1763*) is associated with a predicted Ernull phenotype, and a missense variant c.7174G>A...
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