‘Gardos Channelopathy’: a variant of hereditary Stomatocytosis with complex molecular regulation

‘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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Bibliographic Details
Main Authors: Elisa Fermo, Anna Bogdanova, Polina Petkova-Kirova, Anna Zaninoni, Anna Paola Marcello, Asya Makhro, Pascal Hänggi, Laura Hertz, Jens Danielczok, Cristina Vercellati, Nadia Mirra, Alberto Zanella, Agostino Cortelezzi, Wilma Barcellini, Lars Kaestner, Paola Bianchi
Format: Article
Language:English
Published: Nature Publishing Group 2017-05-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-017-01591-w

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https://doi.org/10.1038/s41598-017-01591-w

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