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Not-So-Rare Defects of RBC Lipidic Composition: Four New Cases of Flippase Deficiency Due to ATP11C Mutations

10 Aug 2025

Abstract excerpt

Adenosine Triphosphatase (ATPase) Phospholipid Transporting 11C gene (ATP11C), located on the X chromosome, encodes the major phosphatidylserine flippase in human erythroid cells. Only five patients have so far been reported with defective ATP11C, displaying mild hemolytic anemia and reduced flippase activity. In this study, we report four Italian male patients in three unrelated families with novel private...

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PMID: 40869043
DOI: 10.3390/ijms26167722

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