Search for dissertations about: "Mikael Kronborg Christophersen"

Found 1 swedish dissertation containing the words Mikael Kronborg Christophersen.

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

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

   Abstract : 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. READ MORE