‘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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5431847/
https://www.ncbi.nlm.nih.gov/pubmed/28496185
http://dx.doi.org/10.1038/s41598-017-01591-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5431847/
https://www.ncbi.nlm.nih.gov/pubmed/28496185
http://dx.doi.org/10.1038/s41598-017-01591-w

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