The AQP1 mutation c.601delG causes the Co-negative phenotype in four patients belonging to the Romani (Gypsy) ethnic group
2014
Background
The Colton blood group antigens Coa, Cob and Co3 are encoded by the AQP1 gene which produces a water channel forming integral protein. The extremely rare Co-deficiency enables immunisation against the Co3 isoantigen.
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