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

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 erythro...

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Main Authors: Stewart, Andrew K., Kedar, Prabhakar S., Shmukler, Boris E., Vandorpe, David H., Hsu, Ann, Glader, Bertil, Rivera, Alicia, Brugnara, Carlo, Alper, Seth L.
Formato: Artigo
Idioma:Inglês
Publicado em: American Physiological Society 2011
Assuntos:
Membrane Transporters, Ion Channels and Pumps
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3093938/
https://ncbi.nlm.nih.gov/pubmed/21209359
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1152/ajpcell.00447.2010
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