‘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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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2017
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Article
Acesso em linha: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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