A novel nonsense variant in RHAG underlies a Nordic Rhnull phenotype.
BACKGROUND AND OBJECTIVES: The extremely rare Rh null phenotype is characterized by the absence of all Rh antigens on erythrocytes. It is divided into the regulator and amorph types based on the underlying genetic background. The more common regulator type depends on critical variants silencing RHAG, which encodes RhAG glycoprotein, necessary for RhD/RhCE expression. Rh null cells have altered exp