‘Gardos Channelopathy’: a variant of hereditary Stomatocytosis with complex molecular regulation
Abstract The Gardos channel is a Ca2+ 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...
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| Main Authors: | , , , , , , , , , , , , , , , |
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| Format: | article |
| Language: | EN |
| Published: |
Nature Portfolio
2017
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| Subjects: | |
| Online Access: | https://doaj.org/article/59b33391f2f1464aa72773d45d39ea5d |
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