Loss-of-function and gain-of-function phenotypes of stomatocytosis mutant RhAG F65S

Four patients with overhydrated cation leak stomatocytosis (OHSt) exhibited the heterozygous RhAG missense mutation F65S. OHSt erythrocytes were osmotically fragile, with elevated Na and decreased K contents and increased cation channel-like activity. Xenopus oocytes expressing wild-type RhAG and Rh...

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Detalhes bibliográficos
Main Authors: Stewart, Andrew K., Shmukler, Boris E., Vandorpe, David H., Rivera, Alicia, Heneghan, John F., Li, Xiaojin, Hsu, Ann, Karpatkin, Margaret, O'Neill, Allison F., Bauer, Daniel E., Heeney, Matthew M., John, Kathryn, Kuypers, Frans A., Gallagher, Patrick G., Lux, Samuel E., Brugnara, Carlo, Westhoff, Connie M., 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/PMC3233792/
https://ncbi.nlm.nih.gov/pubmed/21849667
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1152/ajpcell.00054.2011
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