Novel regulatory variant in ABO intronic RUNX1 binding site inducing A 3 phenotype.
Gian Andri ThunMorgan GueuningSonja SigurdardottirEduardo MeyerElise GourriLinda SchneiderYvonne MerkiNadine TrostKathrin NeuenschwanderCharlotte EngströmBeat M FreyStefan MeyerMaja P Mattle-GremingerPublished in: Vox sanguinis (2024)
phenotypes. Overall, long-range PCR combined with nanopore sequencing proved powerful and showed great potential as an emerging strategy for resolving cases with cryptic ABO phenotypes.