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‘Gardos Channelopathy’: a variant of hereditary Stomatocytosis with complex molecular regulation
The Gardos channel is a Ca(2+) sensitive, K(+) selective channel present in several tissues including RBCs, where it is involved in cell volume regulation. Recently, mutations at two different aminoacid residues in KCNN4 have been reported in patients with hereditary xerocytosis. We identified by wh...
Zapisane w:
| Wydane w: | Sci Rep |
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| Główni autorzy: | , , , , , , , , , , , , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
Nature Publishing Group UK
2017
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5431847/ https://ncbi.nlm.nih.gov/pubmed/28496185 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-01591-w |
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