Ontology highlight
ABSTRACT:
SUBMITTER: Christophersen MK
PROVIDER: S-EPMC5233989 | biostudies-literature | 2017 Jan
REPOSITORIES: biostudies-literature
Christophersen Mikael K MK Jöud Magnus M Ajore Ram R Vege Sunitha S Ljungdahl Klara W KW Westhoff Connie M CM Olsson Martin L ML Storry Jill R JR Nilsson Björn B
Scientific reports 20170113
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 2 in Swedish blood donors, and observed a strong correlation between expression and ...[more]