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Article

A novel nonsense variant in RHAG underlies a Nordic Rhnull phenotype.

Vox sanguinis - 1 Aug 2023

Hellberg Åsa, Arsenovic Mirjana Grujic, Sørvoll Ingvild Hausberg, Lubenow Norbert, Sareneva Inna, Haimila Katri, Nordström Magnus, Olsson Martin L, Storry Jill R

Abstract excerpt

BACKGROUND AND OBJECTIVES: The extremely rare Rhnull 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. Rhnull cells have altered expression of...

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PMID: 37265146
DOI: 10.1111/vox.13478

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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