‘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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Autores principales: 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
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2017
Materias:
Medicine
R
Science
Q
Acceso en línea:https://doaj.org/article/59b33391f2f1464aa72773d45d39ea5d
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