Article
A novel cis-AB variant allele arising from a de novo nucleotide substitution c.796A>G (p.M266V) in the B glycosyltransferase gene.
Transfusion medicine (Oxford, England) - 1 Oct 2015
Lee S Y, Phan M T T, Shin D J, Shin M G, Park J T, Shin J W, Yazer M H, Shin H B, Cho D
Abstract excerpt
BACKGROUND: Cis-AB, a rare ABO variant, is the result of a mutated ABO gene that produces a glycosyltransferase enzyme with dual A and B glycosyltransferase activity. It may lead to ABO discrepancies and a delay in establishing the blood group. To date, there have been no reports of a de novo mut...
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