Article
Rhnull disease: the amorph type results from a novel double mutation in RhCe gene on D-negative background.
Blood - 15 Jul 1998
Huang C H, Chen Y, Reid M E, Seidl C
Abstract excerpt
Rhnull disease, which includes the amorph and regulator types, is a rare genetic disorder characterized by stomatocytosis and chronic hemolytic anemia. We studied here a German family transmitting a putative amorph Rhnull disease gene and identified a rare mutation causing the loss-of-function phenotype. We analyzed the genomic and transcript structure of RH30, RH50, and CD47, the three loci thought to be most...
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