‘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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Dades bibliogràfiques
Publicat a:Sci Rep
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2017
Matèries:
Article
Accés en línia: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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