Article
Homozygosity for a null allele of SMIM1 defines the Vel-negative blood group phenotype.
Nature genetics - 1 May 2013
Storry Jill R, Jöud Magnus, Christophersen Mikael Kronborg, Thuresson Britt, Åkerström Bo, Sojka Birgitta Nilsson, Nilsson Björn, Olsson Martin L
Abstract excerpt
The Vel antigen is present on red blood cells (RBCs) from all humans except rare Vel-negative individuals who can form antibodies to Vel in response to transfusion or pregnancy. These antibodies may cause severe hemolytic reactions in blood recipients. We combined SNP profiling and transcriptional network modeling to link the Vel-negative phenotype to SMIM1, located in a 97-kb haplotype block on chromosome 1p36....
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