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Background
Null phenotypes are characterized by complete absence of all antigens within a blood group system and caused by null variants (e.g., nonsense, frameshift, initiation codon, and canonical splice site variants) in the genes encoding the antigens. Knowing the prevalence and molecular basis of null phenotypes is essential to establish a rare donor program, and the aim of this study was to...
Background and Objectives
Several studies on Chinese and Japanese populations have revealed that a substantial proportion of weak B subgroups are caused by variants in the major regulatory regions of ABO, the proximal promoter, CCAAT‐binding factor/NF‐Y binding site and +5.8‐kb site. We performed molecular analyses of these regions in Koreans with weak B phenotypes.
Materials and Methods
This study...
Background
Recent studies on Chinese and Japanese populations have shown that weak ABO subgroups could be caused by variants in the major regulatory regions of ABO, the proximal promoter, +5.8‐kb site, and CCAAT‐binding factor/NF‐Y binding site. We investigated the molecular basis of weak A subgroups in the Korean population.
Study design and methods
This study included 11 samples suspected to...