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Article

A novel single missense mutation identified along the RH50 gene in a composite heterozygous Rhnull blood donor of the regulator type.

Blood - 15 Feb 1998

Hyland C A, Chérif-Zahar B, Cowley N, Raynal V, Parkes J, Saul A, Cartron J P

Abstract excerpt

Rare individuals who lack all of the Rh blood group antigens are called Rhnull and may be classified as "regulator" or "amorph" types. The suppression of Rh antigen expression for regulator types may be attributed to mutations of the RH50 gene, which is independent of the RH locus. The RH50 gene encodes a glycoprotein that interacts with the Rh proteins to form a functional complex within the red blood cell...

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PMID: 9454778

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