‘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...

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Vydáno v:Sci Rep
Hlavní autoři: Fermo, Elisa, Bogdanova, Anna, Petkova-Kirova, Polina, Zaninoni, Anna, Marcello, Anna Paola, Makhro, Asya, Hänggi, Pascal, Hertz, Laura, Danielczok, Jens, Vercellati, Cristina, Mirra, Nadia, Zanella, Alberto, Cortelezzi, Agostino, Barcellini, Wilma, Kaestner, Lars, Bianchi, Paola
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group UK 2017
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Article
On-line přístup: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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