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Article

Functional characterization and modified rescue of novel AE1 mutation R730C associated with overhydrated cation leak stomatocytosis.

American journal of physiology. Cell physiology - 1 May 2011

Stewart Andrew K, Kedar Prabhakar S, Shmukler Boris E, Vandorpe David H, Hsu Ann, Glader Bertil, Rivera Alicia, Brugnara Carlo, Alper Seth L

Abstract excerpt

We report the novel, heterozygous AE1 mutation R730C associated with dominant, overhydrated, cation leak stomatocytosis and well-compensated anemia. Parallel elevations of red blood cell cation leak and ouabain-sensitive Na(+) efflux (pump activity) were apparently unaccompanied by increased erythroid cation channel-like activity, and defined ouabain-insensitive Na(+) efflux pathways of nystatin-treated cells...

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Identifiers

PMID: 21209359
DOI: 10.1152/ajpcell.00447.2010
PMCID: PMC3093938

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Source receipt: pubmed, retrieved 7 Sept 2026.

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