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New KCNN4 Variants Associated With Anemia: Stomatocytosis Without Erythrocyte Dehydration

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Published in 2022 at "Frontiers in Physiology"

DOI: 10.3389/fphys.2022.918620

Abstract: The K+ channel activated by the Ca2+, KCNN4, has been shown to contribute to red blood cell dehydration in the rare hereditary hemolytic anemia, the dehydrated hereditary stomatocytosis. We report two de novo mutations on… read more here.

Keywords: dehydration; stomatocytosis; new kcnn4; red blood ... See more keywords