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Rh50 glycoprotein gene and rhnull disease: a silent splice donor is trans to a Gly279-->Glu missense mutation in the conserved transmembrane segment.

Blood - 1 Sept 1998

Huang C H, Liu Z, Cheng G, Chen Y

Abstract excerpt

Rhnull disease includes the amorph and regulator types that are thought to result from homozygous mutations at the RH30 and RH50 loci, respectively. Here we report an unusual regulator Rhnull where two G-->A nucleotide (nt) transitions occurred in trans, targeting different regions of the two copies of Rh50 gene. The nt 836 G-->A mutation was a missense change located in exon 6; it converted Gly into Glu at...

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PMID: 9716608

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