Article
Presence of nucleotide substitutions in transcriptional regulatory elements such as the erythroid cell-specific enhancer-like element and the ABO promoter in individuals with phenotypes A3 and B3, respectively.
Vox sanguinis - 1 Aug 2014
Takahashi Y, Isa K, Sano R, Nakajima T, Kubo R, Takahashi K, Kominato Y, Michino J, Masuno A, Tsuneyama H, Ito S, Ogasawara K, Uchikawa M
Abstract excerpt
BACKGROUND AND OBJECTIVES: An erythroid cell-specific regulatory element, referred to as the +5.8-kb site, has been identified in the first intron of the human ABO blood group gene. Subsequent studies have revealed involvement of deletion or mutation at the site in phenotypes Am , Bm and ABm . We...
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