Sökning: "Vel blood group system"

Hittade 1 avhandling innehållade orden Vel blood group system.

1. 1. Identification and characterisation of SMIM1 variants determining the Vel blood group

   Författare :Mikael Kronborg Christophersen; Avdelningen för hematologi och transfusionsmedicin; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Blood groups; Vel blood group system; genetic variation; transcriptional regulation;

   Sammanfattning : The Vel blood group antigen is present on red blood cells from all humans except rare Vel-negative individuals, who can form antibodies to Vel in response to transfusion or pregnancy. It was first described in 1952 as a high incidence antigen, while the molecular background was recently discovered to be a 17-bp deletion in Small Integral Membrane Protein 1, that causes a frame-shift mutation and abolishes SMIM1 expression, thus creating a Vel-negative phenotype. LÄS MER