Article
Lack of the nucleoside transporter ENT1 results in the Augustine-null blood type and ectopic mineralization.
Blood - 4 Jun 2015
Daniels Geoff, Ballif Bryan A, Helias Virginie, Saison Carole, Grimsley Shane, Mannessier Lucienne, Hustinx Hein, Lee Edmond, Cartron Jean-Pierre, Peyrard Thierry, Arnaud Lionel
Abstract excerpt
The Augustine-negative alias At(a-) blood type, which seems to be restricted to people of African ancestry, was identified half a century ago but remains one of the last blood types with no known genetic basis. Here we report that a nonsynonymous single nucleotide polymorphism in SLC29A1 (rs45458701) is responsible for the At(a-) blood type. The resulting p.Glu391Lys variation in the last extracellular loop of...
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