The GPA-dependent, spherostomatocytosis mutant AE1 E758K induces GPA-independent, endogenous cation transport in amphibian oocytes

The previously undescribed heterozygous missense mutation E758K was discovered in the human AE1/SLC4A1/band 3 gene in two unrelated patients with well-compensated hereditary spherostomatocytic anemia (HSt). Oocyte surface expression of AE1 E758K, in contrast to that of wild-type AE1, required coexpr...

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Detaylı Bibliyografya
Asıl Yazarlar: Stewart, Andrew K., Vandorpe, David H., Heneghan, John F., Chebib, Fouad, Stolpe, Kathleen, Akhavein, Arash, Edelman, E. Jennifer, Maksimova, Yelena, Gallagher, Patrick G., Alper, Seth L.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: American Physiological Society 2010
Konular:
Membrane Transporters, Ion Channels and Pumps
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC2822494/
https://ncbi.nlm.nih.gov/pubmed/19907019
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1152/ajpcell.00444.2009
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