Extensive functional analyses of RHD splice site variants: Insights into the potential role of splicing in the physiology of Rh

摘要

BACKGROUNDAmong more than 300 mutated alleles identified so far within the RHD gene, almost 40 are assumed to alter cellular splicing and therefore may have a direct effect on Rh phenotype both at the quantitative and at the qualitative levels. Functional data are, however, mostly unavailable to assess the direct involvement of splicing defect in the underlying physiology.