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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Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: American Physiological Society 2011
Matèries:
Membrane Transporters, Ion Channels and Pumps
Accés en línia: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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