A novel missense variant in ATP11C is associated with reduced red blood cell phosphatidylserine flippase activity and mild hereditary hemolytic anemia.
Min Qiao, Giampaolo Minetti, Anna Bogdanova, Minke A E Rab, Jennifer Bos, Kuntal Dey, Romano Terrasi, Juliette Vanderroost, Anne-Sophie Cloos, Amaury Stommen, Giulio G Muccioli, Steffen M Recktenwald, Alexander N Harrison, Brigitte A van Oirschot, Myrthe J van Dijk, Richard van Wijk, Eduard J van Beers, Robert S Molday, Lars Kaestner, Stéphane Egée, Donatienne Tyteca
American journal of hematology 2024;98(12):1877-1887