Article
SMIM1 variants rs1175550 and rs143702418 independently modulate Vel blood group antigen expression.
Scientific reports - 13 Jan 2017
Christophersen Mikael K, Jöud Magnus, Ajore Ram, Vege Sunitha, Ljungdahl Klara W, Westhoff Connie M, Olsson Martin L, Storry Jill R, Nilsson Björn
Abstract excerpt
The Vel blood group antigen is expressed on the red blood cells of most individuals. Recently, we described that homozygosity for inactivating mutations in SMIM1 defines the rare Vel-negative phenotype. Still, Vel-positive individuals show great variability in Vel antigen expression, creating a risk for Vel blood typing errors and transfusion reactions. We fine-mapped the regulatory region located in SMIM1 intron...
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